Hyperbaric oxygen management of recurrent cellulitis in poikiloderma with neutropenia.

Poikiloderma with neutropenia (PN), is a rare autosomal recessive condition with many associated complications and manifestations. Here we present a patient with confirmed PN who is of one-quarter Chucktaw or Cherokee heritage with no known descent from the Navajo tribe. The patient's condition was complicated by chronic bilateral lower limb cellulitis and associated osteomyelitis which was unresponsive to extensive antibiotic regimens. Subsequent treatment with hyperbaric oxygen therapy (HBOT) was successful. To date, no author has reported on the treatment of recurrent cellulitis using HBOT in this patient population. Based on our experience, HBOT should be considered in patients with PN.

Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA): An Unconventional Mitochondrial Disorder.

Mitochondrial disorders, although heterogeneous, are traditionally described as conditions characterized by encephalomyopathy, hypotonia, and progressive postnatal organ failure. Here, we provide a systematic review of Linear Skin Defects with Multiple Congenital Anomalies (LSDMCA), a rare, unconventional mitochondrial disorder which presents as a developmental disease; its main clinical features include microphthalmia with different degrees of severity, linear skin lesions, and central nervous system malformations. The molecular basis of this disorder has been elusive for several years. Mutations were eventually identified in three X-linked genes, i.e., HCCS, COX7B, and NDUFB11, which are all endowed with defined roles in the mitochondrial respiratory chain. A peculiar feature of this condition is its inheritance pattern: X-linked dominant male-lethal. Only female or XX male individuals can be observed, implying that nullisomy for these genes is incompatible with normal embryonic development in mammals. All three genes undergo X-inactivation that, according to our hypothesis, may contribute to the extreme variable expressivity observed in this condition. We propose that mitochondrial dysfunction should be considered as an underlying cause in developmental disorders. Moreover, LSDMCA should be taken into consideration by clinicians when dealing with patients with microphthalmia with or without associated skin phenotypes.

Successful treatment of late-onset nevus comedonicus with Er:YAG laser.

Nevus comedonicus, a rare congenital hamartoma of the pilosebaceous unit, is characterized by keratotic plugging. It usually occurs after birth and during early childhood. It rarely appears in adulthood. Despite the benign nature of the condition, it usually requires treatment due to aesthetic reasons. Several treatments have been reported in nevus comedonicus, most of them resulting with recurrences. Here, we report a case of nevus comedonicus with adult onset, successfully treated with erbium-doped yttrium aluminum garnet (Er:YAG) laser therapy.

Micose fungoide hipocromiante na infância: avaliação de um caso clínico / Hypopigmented mycosis fungoides in childhood: evaluation of a clinical case

Micose fungoide é uma neoplasia dos linfócitos T helper que afeta a pele e geralmente não apresenta manifestações extracutâneas por muitos anos. Já a micose fungoide hipocromiante (MFH) corresponde a um subtipo daquela com melhor prognóstico e que se apresenta com lesões hipocrômicas a acrômicas, com distribuição mais comum em tronco, regiões proximais de extremidades e cintura pélvica. O diagnóstico é firmado pela apresentação clínica aliada à histopatologia, que evidencia epidermotropismo com linfócitos atípicos. A doença geralmente apresenta boa resposta ao tratamento, o qual pode ser realizado com fototerapia com raios ultravioleta A (UVA), ultravioleta B (UVB), mostarda nitrogenada tópica, carmustina tópica e irradiação cutânea com elétrons. Descreve-se o caso de uma criança com máculas hipocrômicas que surgiram inicialmente no abdome, posteriormente se estendendo para raiz de coxas e região inguinal. As lesões apresentavam descamação fina, porém sem eritema ou prurido e ausência de linfonodomegalia palpável. A princípio o caso foi conduzido como eczemátide hipocromiante, mas o paciente apresentou agravamento importante das lesões em poucos meses apesar do tratamento, sendo assim, aventada a hipótese diagnóstica de MFH. Duas biópsias de pele foram realizadas, e os exames anatomopatológico e imunohistoquímica evidenciaram certo epidermotropismo, mas sem atipia de linfócitos. Foi orientado helioterapia domiciliar, com exposição corporal de 10 minutos no período da manhã, além do uso de emolientes e cuidados gerais com a pele, com relativa boa resposta. O acompanhamento é semestral e caso haja modificação do quadro, a biópsia com estudo histopatológico e a imunohistoquímica serão realizados novamente. (AU)

Mycosis fungoides is a type of cancer of the T helper lymphocytes that affects the skin and generally has no extracutaneous manifestations for many years. Otherwise, hypopigmented mycosis fungoides corresponds to a subtype with better prognosis and presents as hypopigmented or achromatic lesions, with more widespread distribution in the trunk, proximal parts of extremities and pelvic girdle. The diagnosis is confirmed by clinical presentation and histopathology, which shows epidermotropism and atypical lymphocytes. The disease usually show good response to treatment, which is performed with phototherapy with ultraviolet A (UVA), ultraviolet B (UVB), topical nitrogen mustard, topical carmustine and cutaneous irradiation with electrons. We describe the case of a child with hypochromic taint that initially appeared in the abdomen, later extending to root thighs and groin. The lesions had fine scaling, absence of erythema or itching, without the presence of palpable lymph node enlargement. At first the case was conducted as pytiriasis alba, but the patient had significant aggravation of injuries in a few months in spite of the treatment, thus mooted diagnosis of hypopigmented mycosis fungoides. Two skin biopsies were performed, and the histological and immunohistochemical tests showed epidermotropism but no atypia of lymphocytes. It was guided home heliotherapy, with body exposure of 10 minutes in the morning, besides the use of emollients and general skin care, with a relatively good response. The follow-up is bi-annually and if there is a modification in the condition, the biopsy with histopathological study and immunohistochemistry will be performed again. (AU)

[Effects of arnebia root oil on wound healing of rats with full-thickness skin defect and the related mechanism].

Objective: To observe the effects of arnebia root oil on wound healing of rats with full-thickness skin defect, and to explore the related mechanism. Methods: Eighty SD rats were divided into arnebia root oil group and control group according to the random number table, with 40 rats in each group, then full-thickness skin wounds with area of 3 cm×3 cm were inflicted on the back of each rat. Wounds of rats in arnebia root oil group and control group were treated with sterile medical gauze and bandage package infiltrated with arnebia root oil gauze or Vaseline gauze, respectively, with dressing change of once every two days. On post injury day (PID) 3, 7, 14, and 21, 10 rats in each group were sacrificed respectively for general observation and calculation of wound healing rate. The tissue samples of unhealed wound were collected for observation of histomorphological change with HE staining, observation of expressions of vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) with immunohistochemical staining, and determination of mRNA expressions of VEGF and bFGF with real time fluorescent quantitive reverse transcription polymerase chain reaction. Data were processed with analysis of variance of factorial design, t test, and Bonferroni correction. Results: (1) On PID 3, there were a few secretions in wounds of rats in the two groups. On PID 7, there were fewer secretions and more granulation tissue in wounds of rats in arnebia root oil group, while there were more secretions and less granulation tissue in wounds of rats in control group. On PID 14, most of the wounds of rats in arnebia root oil group were healed and there was much red granulation tissue in unhealed wounds, while part of wounds of rats in control group was healed and there were a few secretions and less granulation tissue in unhealed wounds. On PID 21, wounds of rats in arnebia root oil group were basically healed, while there were still some unhealed wounds of rats in control group. (2) On PID 3 and 7, the wound healing rates of rats in arnebia root oil group were (39±5)% and (46±4)% respectively, which were close to (34±3)% and (44±4)% of rats in control group (with t values respectively 0.807 and 0.481, P values above 0.05). On PID 14 and 21, the wound healing rates of rats in arnebia root oil group were (76±4)% and (90±3)% respectively, which were significantly higher than (60±6)% and (73±5)% of rats in control group (with t values respectively 2.308 and 3.072, P<0.05 or P<0.01). (3) On PID 3, 7, and 14, granulation tissue, fibroblasts, and nascent capillaries in unhealed wound tissue of rats in the two groups both gradually increased, and more ranulation tissue, fibroblasts, and nascent capillaries were seen in unhealed wound tissue of rats in arnebia root oil group. On PID 21, granulation tissue, fibroblasts, and nascent capillaries in unhealed wound tissue of rats in the two groups both gradually decreased. (4) On PID 3, 7, and 14, the numbers of VEGF positive cells and bFGF positive cells in unhealed wound tissue of rats in the two groups both gradually increased; there were more VEGF positive cells and bFGF positive cells in unhealed wound tissue of rats in arnebia root oil group than those in control group. On PID 21, positive expressions of VEGF and bFGF both decreased in unhealed wound tissue of rats in the two groups. (5) On PID 3, 7, and 14, mRNA expressions of VEGF in unhealed wound tissue of rats in arnebia root oil group were higher than those of control group (with t values from 2.967 to 4.173, P values below 0.01). On PID 21, mRNA expression of VEGF in unhealed wound tissue of rats in arnebia root oil group was lower than that of control group (t=-4.786, P<0.001). From PID 3 to 21, mRNA expressions of bFGF in unhealed wound tissue of rats in arnebia root oil group were higher than those of control group (with t values from 2.326 to 4.702, P<0.05 or P<0.01). Conclusions: Arnebia root oil can promote wound healing of rats with full-thickness skin defect, which may relate to increasing expressions of VEGF and bFGF.

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.

To safeguard the cell from the accumulation of potentially harmful metabolic intermediates, specific repair mechanisms have evolved. APOA1BP, now renamed NAXE, encodes an epimerase essential in the cellular metabolite repair for NADHX and NADPHX. The enzyme catalyzes the epimerization of NAD(P)HX, thereby avoiding the accumulation of toxic metabolites. The clinical importance of the NAD(P)HX repair system has been unknown. Exome sequencing revealed pathogenic biallelic mutations in NAXE in children from four families with (sub-) acute-onset ataxia, cerebellar edema, spinal myelopathy, and skin lesions. Lactate was elevated in cerebrospinal fluid of all affected individuals. Disease onset was during the second year of life and clinical signs as well as episodes of deterioration were triggered by febrile infections. Disease course was rapidly progressive, leading to coma, global brain atrophy, and finally to death in all affected individuals. NAXE levels were undetectable in fibroblasts from affected individuals of two families. In these fibroblasts we measured highly elevated concentrations of the toxic metabolite cyclic-NADHX, confirming a deficiency of the mitochondrial NAD(P)HX repair system. Finally, NAD or nicotinic acid (vitamin B3) supplementation might have therapeutic implications for this fatal disorder.

Alexandrite Laser for the Treatment of Resistant and Hypertrophic Port Wine Stains: A Clinical, Histological and Histochemical Study / Laser de Alejandrita para el tratamiento de malformaciones capilares tipo mancha en vino de Oporto resistentes y/o hipertróficas: estudio clínico, histológico e histoquímico

BACKGROUND: Port wine stains (PWSs) are commonly treated by the pulsed dye laser. However, treatment of hypertrophic or resistant PWSs is a major therapeutic challenge. The long-pulsed Alexandrite laser could be a safe and effective treatment for resistant PWSs, due to an increase depth of penetration of 50-75% over PDL. OBJECTIVE: The aim of this study was to assess the efficacy and safety of a long-pulsed Alexandrite laser in patients with hypertrophic, dark and/or resistant PWSs. Pink pale resistant PWS were excluded from the study. METHODS: Twenty-one patients (age 20-75 years), phototypes I-IV on the Fitzpatrick scale, with PDL dark resistant PWSs were treated with long-pulsed Alexandrite laser. We excluded high phototypes and PDL pink resistant PWSs. All patients were treated with 3 laser sessions at settings of 3-ms pulse duration, 10-mm spot, 35-55J/cm2, with cooling (Dynamic Cooling Device 50 ms with delay 30 ms). Laser sessions were repeated approximately every 2 months. Three dermatologists evaluated treatment effectiveness by means of photographs of the patients before and after laser treatment (scale from 0 to 4). Adverse events were registered. Patient satisfaction was also assessed (scale from 0 to 10). RESULTS: Mean global improvement was rated as 2.28. Long-lasting side effects included minimal scarring after blistering in 1 patient. Mean patient satisfaction was 8.5. CONCLUSIONS: Our study concludes that long-pulsed Alexandrite laser was effective for treatment of resistant PWSs, although the therapeutical window is narrow with this treatment

ANTECEDENTES: Las manchas en vino de oporto (MVO) son normalmente tratadas con láser de colorante pulsado. Sin embargo, el tratamiento de MVO hipertróficas o resistentes continúa siendo un importante reto terapéutico. El láser de Alejandrita de pulso largo podría ser un método seguro y eficaz para el tratamiento de estas lesiones, debido a que la profundidad que alcanza puede superar entre un 50-75% al láser de colorante pulsado. OBJETIVO: El objetivo de este estudio fue evaluar la eficacia y la seguridad del láser de Alejandrita de pulso largo en pacientes con MVO hipertróficas y/o resistentes. Los pacientes con MVO resistentes de color rosa pálido fueron excluidos del estudio. MÉTODOS: Veintiún pacientes (Edades entre 20-75 años), fototipos I-IV en la escala Fitzpatrick, con MVO oscuras, resistentes al tratamiento con láser de colorante pulsado fueron tratados con láser de Alejandrita de pulso largo. Se excluyeron los fototipos altos y las MVO de color rosado pálido. Todos los pacientes fueron tratados con 3 sesiones de láser con los siguientes parámetros: duración de pulso de 3 ms, spot de 10 mm de diámetro, fluencias comprendidas entre 35 y 55 J/cm2, con refrigeración (Dynamic Coolong Device). El intervalo de tiempo entre sesiones fue de 2 meses aproximadamente. Tres dermatólogos evaluaron la efectividad del tratamiento a través de las fotografías de los pacientes antes y después del tratamiento con láser (escala de 0 a 4). Se registraron los eventos adversos acontecidos. La satisfacción del paciente también se evaluó (escala de 0 a 10). RESULTADOS: La mejoría global media fue de 2,28. Los efectos adversos duraderos fueron lesiones cicatriciales mínimas en un paciente. La satisfacción media de los pacientes fue de 8,5. CONCLUSIONES: Nuestro estudio concluye que el láser de Alejandrita de pulso largo puede ser eficaz en el tratamiento de MVO resistentes, aunque la ventana terapéutica es estrecha con este tratamiento

The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand.

BACKGROUND: We describe a male with functionally impairing radial deviation of the thumb who presented to us at 24 years of age. Two sclerotic skin lesions had been excised 7 years before because of consecutive skin contracture. Latest radiological examination showed a spotted pattern consistent with osteopoikilosis. CASE PRESENTATION: A corrective osteotomy of the thumb was carried out due to the patients discomfort. Facing the simultaneous osteo-cutaneous malformation we postulated a Buschke-Ollendorff syndrome. Buschke-Ollendorff syndrome is a rare autosomal-dominant hereditary disorder of connective tissue with typical osteo-cutaneous manifestations. To explore our hypothesis, biopsies were taken from the affected bone lesions and surrounding skin and soft tissue for histological investigation and genetic testing of the LEMD3 gene was performed on blood of the patient. The histology showed typical changes of the bone architecture and a fibrotic collagenous nodule of the skin. The genetic testing on DNA extracted from peripheral blood leucocytes confirmed a heterozygous loss of function mutation in the LEM domain-containing protein 3 (LEMD3) gene coding for the inner nuclear membrane protein MAN1, which causes osteopoikilosis by antagonizing transforming growth factor ß (TGF-ß) and bone morphogenetic protein (BMP) signalling. CONCLUSIONS: In atypical cases of simultaneous occurrence of fibrotic skin lesions and a spotted pattern in the X-ray we recommend the genetic screening of the LEMD3 gene. A correct diagnosis of Buschke-Ollendorff syndrome is necessary to spare patients from expensive investigations and to provide reassurance about the benign nature of the disease.

[Effects of Huanglian ointment on wound healing of mice with full-thickness skin defect and the related mechanism].

Objective: To observe the effects of Huanglian ointment on wound healing of mice with full-thickness skin defect, and to explore the related mechanism. Methods: Thirty male C57BL/6J mice were divided into Huanglian ointment group and vehicle group according to the random number table after round wounds of full-thickness skin defect with diameter of 7.5 mm were inflicted on the back of each mouse, with 15 mice in each group. Wounds of mice in Huanglian ointment group and vehicle group were treated with Huanglian ointment and vehicle respectively from post injury day (PID) 1 on, 2 times each day. Five mice from each group were selected to observe wound changes on PID 0, 3, 7, 10, and 14, and wound healing rates were calculated. Five mice out of the 10 mice that hadn't been used for general observation in each group were sacrificed on PID 3 and 7 respectively, and 5 mice after being used for general observation in each group were sacrificed on PID 14. Wound and skin tissue within 2 mm from the edge of wound was collected. Histologic scoring was conducted based on the histomorphological observation with HE staining. The expression of double positive cells of alpha smooth muscle actin (α-SMA) and Ki-67 (myofibroblast) in tissue of wounds of mice was observed by immunofluorescence staining. Protein expressions of transforming growth factor beta (TGF-ß) and collagen in tissue of wounds of mice were determined by enzyme-linked immunosorbent assay. Data were processed with analysis of variance for repeated measurement, analysis of variance of factorial design, t test of two independent samples, one-way analysis of variance, and Bonferronni test or correction. Results: (1) Wounds of mice in two groups were red and swollen on PID 0, while they were neither red nor swollen with scabs on PID 3 and 7. On PID 10, woundsof mice in Huanglian ointment group contracted obviously, while the contracted wounds of mice in vehicle group were smaller than those in Huanglian ointment group. On PID 14, wounds of most mice in Huanglian ointment group were healed, while wounds of some mice in vehicle group failed to heal. Wound healing rates of mice in two groups were close on PID 3 and 7 (with t values respectively 0.64 and 1.90, P values above 0.05). Wound healing rates of mice in Huanglian ointment group on PID 10 and 14 were (76±7)% and (93±5)% respectively, significantly higher than those of vehicle group [(48±9)% and (68±11)%, with t values respectively 7.44 and 3.89, P values below 0.01]. Wound healing rates of mice in two groups on PID 7, 10, and 14 were significantly higher than those on the previous time points of the same group (with P values below 0.01). (2) Histologic scores of wounds of mice in two groups were close on PID 3 (t=-0.76, P>0.05). Histologic scores of wounds of mice in Huanglian ointment group on PID 7 and 14 were (7.0±1.6) and (11.6±2.1) points respectively, significantly higher than those of vehicle group [(4.2±1.3) and (7.2±1.3) points, with t values respectively 1.96 and 2.50, P<0.05 or P<0.01]. Histologic scores of wounds of mice in two groups on PID 7 and 14 were significantly higher than those on the previous time points of the same group (with P values below 0.01). (3) Percentages of double positive cells of α-SMA and Ki-67 in tissue of wounds of mice in Huanglian ointment group on PID 3 and 7 were (35±12)% and (62±10)% respectively, significantly higher than those of vehicle group [(17±12)% and (34±6)%, with t values respectively -2.48 and -5.25, P<0.05 or P<0.01]. The percentage of double positive cells of α-SMA and Ki-67 in tissue of wounds of mice in Huanglian ointment group on PID 14 was (25±5)%, significantly lower than that of vehicle group [(44±17)%, t=2.50, P<0.05]. The percentage of double positive cells of α-SMA and Ki-67 in tissue of wounds of mice on PID 7 was significantly higher than that on PID 3 or 14 in Huanglian ointment group (with P values below 0.01). Percentages of double positive cells of α-SMA and Ki-67 in tissue of wounds of mice on PID 7 and 14 were significantly higher than those on the previous time points in vehicle group (with P values below 0.05). (4) Protein expressions of TGF-ß in tissue of wounds of mice in Huanglian ointment group on PID 3 and 7 were (396±45) and (722±96) pg/mL respectively, significantly higher than those of vehicle group [(290±42) and (382±62) pg/mL, with t values respectively -8.17 and -6.65, P values below 0.01]. Protein expressions of TGF-ß in tissue of wounds of mice in two groups were close on PID 14 (t=1.60, P>0.05). The protein expression of TGF-ß in tissue of wounds of mice in Huanglian ointment group on PID 7 was significantly higher than that on PID 3 or 14 (with P values below 0.01). Protein expressions of TGF-ß in tissue of wounds of mice in vehicle group on PID 7 and 14 were significantly higher than those on the previous time points (with P values below 0.05). Protein expressions of collagen in tissue of wounds of mice in two groups were close on PID 3 (t=1.99, P>0.05). Protein expressions of collagen in tissue of wounds of mice in Huanglian ointment on PID 7 and 14 were (47±10) and (70±14) ng/mL respectively, significantly higher than those of vehicle group [(34±10) and (42±12) ng/mL, with t values respectively 3.15 and 3.52, P<0.05 or P<0.01]. Protein expressions of collagen in tissue of wounds of mice in two groups on PID 7 and 14 were significantly higher than those on the previous time points of the same group (P<0.05 or P<0.01). Conclusions: Huanglian ointment can promote wound healing of full-thickness skin defect of mice through increasing production of myofibroblasts and protein expressions of TGF-ß and collagen.

Schimmelpenning syndrome.

Schimmelpenning syndrome (SS) includes an organoid nevus that follows the lines of Blaschko and defects of brain, eyes, bones, or other systems. We report a case of a 3-month old female infant, who presented with several thin plaques, with irregular borders, yellowish color, which had a verrucous appearance, following the lines of Blaschko, mainly occupying the left side of posterior trunk, the left face, the right side of the anterior trunk, and the right upper limb. These plaques had been present since birth. In addition, she had a flat salmon to yellow nevus on the left parietal and temporal region of the scalp, with a bald patch. She was diagnosed after birth with an interauricular communication. The skin biopsy from the lesion of the right arm revealed an epidermal nevus that occupied the epidermis completely. Routine and other complementary laboratory blood tests, including platelet count, thyroid function tests, 25-hydroxy-vitamin D, parathyroid hormone, and plasma and urinary levels of calcium and phosphorus were negative. Cerebral magnetic resonance and renal ultrasound were normal. The diagnosis of SS was established. She is being followed in the clinics of Dermatology, Cardiology, Pediatrics, and Pediatric Neurology. We report this case to point out the importance of investigating patients with epidermal nevus to identify associated conditions.

Cutaneous histologic artifact associated with the use of a needle-free anesthesia device for skin biopsy.

A needle-free system that delivers lidocaine to the dermis using pressurized gas is often used as an alternative anesthetic for venipuncture and intravenous catheterization in children. This case report illustrates the potential histologic artifacts that may arise when using a needleless device for a cutaneous punch biopsy. We suggest against using a needleless system for pediatric skin biopsies.

Fotodermatosis y terapia dedesensibilización / Photodermatosis and desensitization therapy

Las fotodermatosis son un grupo de desórdenes cutáneos causados o agravados por la radiación ultravioleta o la luz visible. Se dividen en cuatro grupos: I, fotodermatosis mediadas inmunológicamente (anteriormente llamadas idiopáticas); II, fotosensibilidad inducida por drogas y químicos; III, desórdenes de la reparación de excisión de nucleótidos del ADN y, IV, dermatosis fotoagravadas. Para llegar al diagnóstico correcto de estas enfermedades es necesario realizar un enfoque clínico adecuado, que esté apoyado en un interrogatorio y examen físico completos, además de exámenes especializados como la fotoprueba y fotoparche. En esta revisión se hace una recopilación de los aspectos epidemiológicos, clínicos, de diagnóstico y tratamiento de las fotodermatosis mediadas inmunológicamente, con mayor énfasis en la terapia de desensibilización con luz ultravioleta (PUVA, UVA, UVB), la cual ha mostrado resultados positivos en estas enfermedades, prefiriéndose la UVB por la mayoría de los autores, a excepción de la urticaria solar, en la cual la PUVA ha demostrado mejores resultados que la UVB a largo plazo. Para esto es fundamental determinar primero la dosis de eritema mínimo (DEM) y la dosis de urticaria mínima en el caso de la urticaria solar. La principal desventaja de la terapia de fotodesensibilización es que sus efectos son temporales y que los pacientes requieren terapia de mantenimiento para lograr un control duradero de la enfermedad, con el riesgo de los efectos carcinogénicos de la luz ultravioleta. Además, hasta el momento hay pocos estudios que evalúen la eficacia y seguridad de la fototerapia de desensibilización y en algunos casos las muestras son muy pequeñas.

Photodermatoses are a group of skin disorders caused or aggravated by ultraviolet radiation or visible light. They are divided in four groups: I, immunologically mediated photodermatoses (previously called idiopathic); II, drug- and chemical- induced photosensitivity; III, defective DNA repair disorders; and IV, photoaggravated dermatoses. To reach the correct diagnosis of these pathologies is necessary to make an appropriate clinical approach supported by a comprehensive interview and physical examination as well as specialized tests like photopatch and phototest. This review is a compilation of the epidemiological, clinical, diagnosis and treatment of immunologically mediated photodermatoses, with greater focus on desensitization therapy with ultraviolet light (PUVA, UVA and UVB), which has shown positive results in this pathologies, being UVB preferred by most authors except in solar urticaria, in which PUVA has displayed better results than UVB in the long term. Firstable, is essential to determine the minimal erythema dose and minimal urticarial dose for solar urticaria. The main disadvantages of photodesensitization therapy is the short therm effects and requirement of maintenance therapy to reach lasting control of disease with the risk of carcinogenesis of UVL. Further, there are few trials that study efficacy and security of desensitization phototherapy and some of these include small sample of patients corroborate this information.

Uso de terapia biológica na doença de Crohn metastática: relato de caso e revisão da literatura / Use of biological therapy in metastatic Crohn's disease: a case report and literature review

A doença de Crohn metastática envolve a infiltração cutânea granulomatosa em locais anatomicamente separados do trato gastrointestinal, com tendência à cronicidade. É relatado caso de paciente masculino, 20 anos, há seis meses com dor e eliminação de secreção purulenta de úlceras em região perianal, inguinal direita e genital, sem melhora com o uso metronidazol e ciprofloxacina. Antecedente de proctocolectomia em 2002. Ao exame, à inspeção, evidenciava-se orifício fistuloso posterior a 2,0 cm da borda anal, úlcera de 5,0 cm na base do escroto e outra úlcera circundando a base do pênis; ao toque, ânus fibrótico e encarcerado. Realizada fistulotomia, biópsia e curetagem das úlceras genital e inguinal. O resultado histopatológico evidenciou processo inflamatório granuloso não caseoso. Em virtude da falha terapêutica dos antimicrobianos, foi optado pelo tratamento com infliximabe na dose 5 mg/kg nas semanas 0, 2 e 6, e azatioprina 2 mg/kg/dia. Ao término da fase de indução, o paciente apresentava cicatrização parcial das lesões ulceradas, ausência de secreção e alívio da dor. Atualmente em acompanhamento ambulatorial com infusões de infliximabe a cada oito semanas.

The metastatic Crohn's disease involves granulomatous infiltration of skin in places anatomically separated from the gastrointestinal tract, with a tendency to chronicity. We report the case of male patient, 20 years old, complaining of pain and elimination of purulent secretion from ulcers in the perianal region, right inguinal and genital for six months, without improvement using metronidazole and ciprofloxacin. Previous proctocolectomy in 2002. On examination, the inspection revealed a fistulous orifice on posterior midline at 2.0 cm from the anal verge, an ulcer of 5.0 cm at the base of the scrotum and other ulcer encircling the base of the penis; on digital touch, anus fibrotic and incarcerated. Performed fistulotomy, biopsy and curettage of genital and inguinal ulcers. The histo-pathological study confirmed noncaseating granulomatous inflammatory process. Because of the failure of antimicrobial therapy, it was opted for treatment infliximab at the dose 5 mg/kg at weeks 0, 2 and 6, and azathioprine 2 mg/kg/day. In the end stage of induction, the patient had partial healing of ulcerated lesions, absence of secretion and pain relief. Currently in monitoring with outpatient infusions of infliximab every eight weeks.

Reduction of pain in the treatment of vascular lesions with a pulsed dye laser and pneumatic skin flattening.

The treatment of vascular lesions, including port wine stains (PWSs), with a pulsed dye laser is very painful and often requires general anaesthesia. This is particularly problematic with children. Pneumatic skin flattening (PSF) is a new technology that naturally reduces pain in laser-based aesthetic treatments. The objective of this study was to test pain reduction, as well as lesional clearance, by combining pneumatic skin flattening (PSF) technology with a pulsed dye laser in the treatment of vascular lesions. Twenty-one patients (three of them children) were treated for vascular lesions, mostly PWSs (13 patients). The patients were treated with a 595 nm pulsed dye laser operated at energies of 5.75-13.25 (median 9.25) J/cm(2). Acute pain was evaluated in all 21 patients. Topical anaesthetic (EMLA cream) was applied before treatment in six cases. Identical energies were applied to both sites. The pain during PSF treatment was compared to pain during regular treatment without PSF. Blanching response to treatment was evaluated in 18 patients after 6-12 weeks. Significant pain reduction was observed in 21/21 patients (100%). The average reduction in pain score was from 10 without PSF (painful) to 2.6 with PSF (comfortable). Follow-up examination of 18 patients after 6-12 weeks showed identical blanching of tissue in both the PSF-treated areas and those not treated with PSF in all patients. It was concluded that the PSF technology significantly reduced pain in the treatment of vascular lesions with a pulsed dye laser without affecting efficacy.

Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency.

The cardiofaciocutaneous (CFC) syndrome is characterized by congenital heart defect, developmental delay, peculiar facial appearance with bitemporal constriction, prominent forehead, downslanting palpebral fissures, curly sparse hair and abnormalities of the skin. CFC syndrome phenotypically overlaps with Noonan and Costello syndromes. Mutations of several genes (PTPN11, HRAS, KRAS, BRAF, MEK1 and MEK2), involved in the mitogen-activated protein kinase (MAPK) pathway, have been identified in CFC-Costello-Noonan patients. Coenzyme Q10 (CoQ10), a lipophilic molecule present in all cell membranes, functions as an electron carrier in the mitochondrial respiratory chain, where it transports electrons from complexes I and II to complex III. CoQ10 deficiency is a rare treatable mitochondrial disorder with various neurological (cerebellar ataxia, myopathy, epilepsy, mental retardation) and extraneurological (cardiomyopathy, nephropathy) signs that are responsive to CoQ10 supplementation. We report the case of a 4-year-old girl who presented a CFC syndrome, confirmed by the presence of a pathogenic R257Q BRAF gene mutation, together with a muscular CoQ10 deficiency. Her psychomotor development was severely impaired, hindered by muscular hypotonia and ataxia, both improving remarkably after CoQ10 treatment. This case suggests that there is a functional connection between the MAPK pathway and the mitochondria. This could be through the phosphorylation of a nuclear receptor essential for CoQ10 biosynthesis. Another hypothesis is that K-Ras, one of the proteins composing the MAPK pathway, might be recruited into the mitochondria to promote apoptosis. This case highlights that CoQ10 might contribute to the pathogenesis of CFC syndrome.

Láser y otras fuentes de luz en el tratamiento de manchas en vino de Oporto / Laser treatment of Port wine stain

El tratamiento con láser de lesiones vasculares cutáneas está avanzando rápidamente en los últimos años. La mancha en vino de Oporto (Port wine stain [PWS]) es una de las primeras lesiones tratadas con láser con éxito. El láser de colorante pulsado (PDL) se ha desarrollado basándose en el concepto de la fototermólisis selectiva y ha supuesto una revolución en el tratamiento de PWS. Sin embargo, la respuesta obtenida es variable, alcanzándose un aclaramiento sustancial del color de la lesión tras varias sesiones. Diversos estudios demuestran que la modificación de parámetros del PDL como el aumento en la amplitud de pulso, mayor longitud de onda, o fluencias más altas asociadas a un sistema de enfriamiento, consiguen un aumento en la selectividad y mejoran la respuesta. Por otra parte, lesiones profundas, gruesas o sobreelevadas responden pobremente a los tratamientos convencionales. El objetivo de nuestro estudio es la revisión de los distintos tipos de láser así como otras fuentes de luz que se están desarrollando para el tratamiento de éstas y otras lesiones vasculares

Laser treatment of vascular skin lesions is rapidly improving. Port wine stain (PWS) is one of the first lesions successfully treated with laser. The pulsed dye laser (PDL) has been developed on the concept of selective photothermolysis and has revolutionized PWS treatment. Eventhough the response is variable, substantial blanching can be obtained after several sessions. Greater selectivity and better response have been achieved by modifying PDL parameters such as longer pulse width, longer wavelength, or higher energy fluencies with cooling skin devices. It is known that thick, deep or raised lesions present poor response to conventional treatments. The aim of this study is to review the different lasers and other light sources which are developing for the treatment of PWS and other vascular lesions

Omega-3 fatty acid status in attention-deficit/hyperactivity disorder.

Lower levels of long-chain polyunsaturated fatty acids, particularly omega-3 fatty acids, in blood have repeatedly been associated with a variety of behavioral disorders including attention-deficit/hyperactivity disorder (ADHD). The exact nature of this relationship is not yet clear. We have studied children with ADHD who exhibited skin and thirst symptoms classically associated with essential fatty acid (EFA) deficiency, altered plasma and red blood cell fatty acid profiles, and dietary intake patterns that do not differ significantly from controls. This led us to focus on a potential metabolic insufficiency as the cause for the altered fatty acid phenotype. Here we review previous work and present new data expanding our observations into the young adult population. The frequency of thirst and skin symptoms was greater in newly diagnosed individuals with ADHD (n = 35) versus control individuals without behavioral problems (n = 112) drawn from the Purdue student population. A follow up case-control study with participants willing to provide a blood sample, a urine sample, a questionnaire about their general health, and dietary intake records was conducted with balancing based on gender, age, body mass index, smoking and ethnicity. A number of biochemical measures were analyzed including status markers for several nutrients and antioxidants, markers of oxidative stress, inflammation markers, and fatty acid profiles in the blood. The proportion of omega-3 fatty acids was found to be significantly lower in plasma phospholipids and erythrocytes in the ADHD group versus controls whereas saturated fatty acid proportions were higher. Intake of saturated fat was 30% higher in the ADHD group, but intake of all other nutrients was not different. Surprisingly, no evidence of elevated oxidative stress was found based on analysis of blood and urine samples. Indeed, serum ferritin, magnesium, and ascorbate concentrations were higher in the ADHD group, but iron, zinc, and vitamin B6 were not different. Our brief survey of biochemical and nutritional parameters did not give us any insight into the etiology of lower omega-3 fatty acids, but considering the consistency of the observation in multiple ADHD populations continued research in this field is encouraged.

Micobacteriose cutânea atípica pós-mesoterapia / Atypical cutaneous mycobacteriosis following mesotherapy

Infecções cutâneas causadas por micobactérias de crescimento rápido não são comuns. Os aspectos clínicos, histopatológicos e bacteriológicos não são muito distintos, e seu dignóstico pode ser difícil. Apresenta-se uma paciente da Bahia, Brasil, com micobacteriose cutânea atípica por Mycobacterium fortuitum após mesoterapia para lipodistrofina regional(celulite), enfatizando-se a importância de considerar micobactérias na patogênese de doenças cutâneas crônicas