Ictiosis vulgar asociada a síndrome de Ehlers Danlos tipo clásico en una niña / Ichthyosis Vulgaris Associated with Ehlers Danlos Syndrome Classic Type in a Girl

Introducción: La ictiosis vulgar y el síndrome de Ehlers Danlos tipo clásico integran dos genodermatosis que presentan en común un patrón de herencia autosómico dominante, pero muestran manifestaciones clínicas variadas. Es infrecuente encontrar concomitancia de ambas dermatosis en un mismo paciente, y cuando ocurre la heterogeneidad clínica hace complejo el diagnóstico. Objetivo: Exponer un caso que presentó ictiosis vulgar asociada con el síndrome de Ehlers Danlos tipo clásico, en el que el análisis del árbol genealógico contribuyó a orientar el diagnóstico. Presentación del caso: Paciente femenina de 10 años de edad, atendida en la consulta especializada de genodermatosis en Las Tunas. Presentaba, desde edades tempranas, lesiones escamosas localizadas en las piernas y brazos, y que empeoraban durante el invierno. Desde los nueve años comenzó a mostrar luxaciones frecuentes de hombro derecho e hiperextensibilidad de la piel. Constaban antecedentes familiares de piel escamosa en miembros de la familia materna e hipermovilidad articular en varios miembros de la familia paterna: El árbol genealógico contribuyó a orientar el diagnóstico y a realizar la atención médica adecuada. Conclusiones: Se trató un caso interesante porque resulta infrecuente encontrar en un mismo paciente dos enfermedades genéticas, lo cual implicó dificultades en el momento de confirmar el diagnóstico, así como su atención. A este diagnóstico, en el caso de ambas genodermatosis, contribuyó el análisis del árbol genealógico familiar, herramienta fundamental en la determinación de enfermedades genéticas(AU)

Introduction: Ichthyosis vulgaris and Ehlers Danlos syndrome classic type comprise two genodermatoses that share an autosomal dominant pattern of inheritance, but show varied clinical manifestations. It is rare to find concomitance of both dermatoses in the same patient, and when this occurs the clinical heterogeneity makes the diagnosis complex. Objective: To present a case of ichthyosis vulgaris associated with classic Ehlers Danlos syndrome, in which analysis of the family tree helped to guide the diagnosis. Case presentation: 10-year-old female patient seen at the specialised genodermatosis clinic in Las Tunas. She presented, from an early age, with scaly lesions located on the legs and arms, which worsened during the winter. From the age of nine he began to show frequent dislocations of the right shoulder and hyperextensibility of the skin. There was a family history of scaly skin in members of the maternal family and joint hypermobility in several members of the paternal family: the family tree helped to guide the diagnosis and appropriate medical care. Conclusions: This was an interesting case because it is rare to find two genetic diseases in the same patient, which implied difficulties at the time of confirming the diagnosis, as well as its care. The analysis of the family tree, a fundamental tool in the determination of genetic diseases, contributed to this diagnosis in the case of both genodermatoses(AU)

Ansa pancreática: desafio no diagnóstico etiológico em paciente jovem com pancreatite grave / Ansa pancreatica: etiological diagnosis challenge in a young patient with severe pancreatitis

A ansa pancreática é uma variação anatômica rara dos ductos pancreáticos. Consiste numa comunicação entre o ducto pancreático principal (Wirsung) e o ducto pancreático acessório (Santorini). Recentemente, estudos têm demonstrado estar essa variação anatômica implicada como fator predisponente e significativamente associada a episódios recorrentes de pancreatite aguda. A pancreatite é uma entidade clínica pouco frequente na infância. Diferente dos adultos, as causas mais comuns incluem infecções virais, por ascaris, medicamentosas, traumas e anomalias estruturais. O objetivo deste estudo foi relatar um caso de pancreatite aguda grave não alcoólica e não biliar, em um paciente jovem de 15 anos, em cuja propedêutica imagenológica evidenciou-se alça, comunicando com os ductos pancreáticos ventral e dorsal, compatível com ansa pancreática.

Ansa pancreatica is a rare anatomical variation of the pancreatic ducts. It consists of communication between the main pancreatic duct (Wirsung) and the accessory pancreatic duct (Santorini). Recently, studies have shown that this anatomical variation is implicated as a predisposing factor and significantly associated with recurrent episodes of acute pancreatitis. Pancreatitis is a rare clinical entity in childhood. Different from that in the adults, the most common causes include viral and ascaris infections, drugs, traumas, and structural abnormalities. The objective of this study was to report a case of a severe non-alcoholic and non-biliary acute pancreatitis in a 15-year-old patient, whose propedeutic imaging showed a loop communicating with the ventral and dorsal pancreatic ducts, consistent with ansa pancreatica.

An Analysis of the Filaggrin Gene Polymorphism in Korean Atopic Dermatitis Patients

Research of the FLG mutation in various ethnic groups revealed non-overlapping mutation patterns. In addition, Japanese and Chinese atopic patients showed somewhat different mutations. These ethnic differences make the research on Korean patients mandatory; however, no systematic research on Korean atopic dermatitis (AD) patients has been performed. This study aims to investigate the genetic polymorphism of FLG in Korean atopic dermatitis patients. The study was made up of three groups including 9 Ichthyosis vulgaris (IV) patients, 50 AD patients and 55 normal controls: the ichthyosis group was incorporated due to the reported association between the FLG mutation and IV. In comparison to other sequencing methods, the overlapping long-range PCR was used. We revealed the genetic polymorphism of filaggrin in Koreans, and at the same time, we discovered nonsense mutations in p.Y1767X and p.K4022X in Korean AD patients. By using FLG sequencing techniques confirmed in this study, new mutations or genetic polymorphisms with ethnic characteristics would be detected and further larger studies of repeat number polymorphisms could be performed.

Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris.</p><p><b>METHODS</b>All coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls.</p><p><b>RESULTS</b>Two novel missense mutations, c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y), were detected in all affected individuals from family 1 and family 2 respectively but none of the controls.</p><p><b>CONCLUSION</b>The c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y) of the FLG gene may lead to alteration of the structure and function of the FLG protein and cause ichthyosis vulgaris in the two families.</p>

Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect FLG gene mutations in 10 families affected with ichthyosis vulgaris and to explore mutational hot spot of the FLG gene in Chinese Han population.</p><p><b>METHODS</b>PCR and direct sequencing were carried out to identify potential mutations of the FLG gene in above families. One hundred healthy individuals were analyzed as normal controls.</p><p><b>RESULTS</b>Three mutations (3321delA, 5757delCCAG and S2706X) were identified in 7 families. A homozygous mutation 3321delA was also detected in two unrelated patients. No mutations were found in the remaining three families. Neither of the null mutations (5757delCCAG and S2706X) was found in the 100 controls. However, for 3321delA, a heterozygous mutation was also found in two of the controls.</p><p><b>CONCLUSION</b>Three FLG mutations have been identified in the selected families with ichthyosis vulgaris, and the 3321delA mutation was most prevalent (46.9%). Mutations 5757delCCAG and S2706X were first found in patients with ichthyosis vulgaris. Other candidate genes may underlie the disease in those without a FLG mutation.</p>

Pityriasis Rotunda Treated with Combination of Topical and Oral Retinoid / 대한피부과학회지

Pityriasis rotunda (PR) is a rare disease characterized by persistent, sharply defined, oval, scaly patches of dry skin, localized mainly on the trunk and extremities. Its etiology remains unknown. However, several reports suggest that it is a form of acquired ichthyosis vulgaris or a skin manifestation of systemic disease, such as malnutrition, chronic illness, hepatic disease, and malignancies. Although a variety of treatment modalities, including topical lactic acid, urea, tars, emollients, and corticosteroid, have been applied to it, their efficacies are not satisfactory. Herein, we report a case of PR in a healthy man who was successfully treated with oral and topical retinoids.

Pityriasis Rotunda Treated with Combination of Topical and Oral Retinoid / 대한피부과학회지

Pityriasis rotunda (PR) is a rare disease characterized by persistent, sharply defined, oval, scaly patches of dry skin, localized mainly on the trunk and extremities. Its etiology remains unknown. However, several reports suggest that it is a form of acquired ichthyosis vulgaris or a skin manifestation of systemic disease, such as malnutrition, chronic illness, hepatic disease, and malignancies. Although a variety of treatment modalities, including topical lactic acid, urea, tars, emollients, and corticosteroid, have been applied to it, their efficacies are not satisfactory. Herein, we report a case of PR in a healthy man who was successfully treated with oral and topical retinoids.

Pityriasis Rotunda Developed during Pregnancy / 대한피부과학회지

Pityriasis rotunda is an uncommon dermatosis characterized by asymptomatic, multiple, widely distributed, round or oval-shaped, hyperpigmented or hypopigmented, fine, scaly patches. They typically involve the abdomen, the trunk and extremities. Histopathologic findings are consistent with ichthyosis vulgaris, such as hyperkeratosis, hypogranulosis or agranulosis, hyperpigmentation of the basal layer in epidermis, and perivascular lymphohistiocytic infiltration in the dermis. Although the etiology of the disease remains unknown, it has been associated with a variety of underlying systemic diseases including infectious diseases, hormonal disorders, malignancies, and chronic disorders. One clinical case has been reported about the occurrence of the disease during pregnancy of a 24-year-old african woman, but there is only one reported case of exacerbation of the disease during pregnancy in Korea. Herein, we report a case of pityriasis rotunda occurring during pregnancy.

Genetic Polymorphism of FLG in Korean Ichthyosis Vulgaris Patients

BACKGROUND: Filaggrin is a key protein that facilitates the formation of skin barrier by forming a stratum corneum. Mutations in the gene encoding filaggrin (FLG) have recently been reported in patients with ichthyosis vulgaris (IV). Interestingly, there are ethnic differences between FLG mutations identified in Asians and Europeans, and few FLG mutations are overlapping between Chinese and Japanese IV patients. OBJECTIVE: The aim of this study was to investigative the genetic polymorphism of FLG in Korean IV patients. METHODS: Genomic DNA was extracted from whole venous blood specimen of Korean patients with IV and a control group, and the full sequence of FLG was determined via overlapping long-range polymerase chain reaction method. RESULTS: Analysis of base sequence previously unreported reveal new nonsense mutation p.Y1767X in a Korean IV patient, and additional new single nucleotide polymorphisms. CONCLUSION: On the basis of this study, it is anticipated that analysis of FLG gene sequence be extended to other dermatoses associated with FLG, such as atopic dermatitis.

Clinical features of the nephrotic syndrome associated with ichthyosis vulgaris and analysis of related gene mutation / 中华儿科杂志

<p><b>OBJECTIVE</b>To study clinical features of 3 children who presented with nephrotic syndrome (NS) associated with ichthyosis vulgaris (IV), and to detect relationship between NS associated with IV in patients and FLG gene or NPHS2 gene.</p><p><b>METHOD</b>Clinical and kidney pathological data of the 3 patients were analyzed and progress of pathologic damage in the patient kidney was observed through repeated percutaneous renal biopsy. Using polymerase chain reaction-single strand conformation polymorphism and DNA sequencing, the diversity of the expression of NPHS2 gene in the 3 patients were analyzed, and FLG gene in the 3 patients and parts of their family members with IV was detected.</p><p><b>RESULT</b>(1) The age of the 3 patients (patient 1 was a girl and patients 2 and 3 were boys) suffering from NS was 3 years and 8 months, 2 years and 6 months, and 5 years and 3 months, respectively. The age of onset of IV was 1 year and 6 months, 10 months, and 2 years and 6 months, respectively. All the 3 patients were resistant to steroid therapy. Despite multi-immunosuppressive therapy, no clinical response was achieved. The patients were followed up for 1.5 to 4.0 years. The patients displayed continuous proteinuria, renal function was normal, but their heights were lower than other children at the same age. (2) The older brother of patient 1 died of uremia. The other patients' family members did not have kidney disease. (3) Renal histopathology showed that the patients 1 and 2 had mild mesangial proliferative glomerulonephritis (MsPGN) and the patient 3 had minimal change disease (MCD). One and a half years after the first renal biopsy, the patients 1 and 2 underwent repeated renal biopsy. Renal histopathology showed that the 2 patients' disease developed to medium MsPGN. (4) None of the 3 patients had NPHS2 gene mutation. All the three patients had R501X and 2282del4 which are the common gene mutation type of the FLG, and all the patients were heterozygote. With the detection of the FLG gene of the part of the patients of the three families, the second patient's grandfather had the R501X homozygote mutation and the others were the R501X heterozygote mutation and 2282del4 heterozygote mutation.</p><p><b>CONCLUSION</b>The 3 cases of NS associated with IV had no response to steroid and multi-immunosuppressive therapy, the renal damage observed by histopathology progressed fast. The children with NS associated with IV displayed R501X heterozygote mutation and 2282del4 heterozygote mutation of FLG gene, which suggested that the absence of response to steroid and multi-immunosuppressive therapy may be related to the FLG gene.</p>

Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris / 中国医学科学院学报

<p><b>OBJECTIVE</b>To elucidate the pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris (IV).</p><p><b>METHODS</b>Linkage analysis was performed by using STR markers in chromosome 1, and mutation detection was used to screen for FLG gene mutation.</p><p><b>RESULTS</b>A maximum two-point Lod score of 3.46 (theta=0) was obtained at D1S2696. Haplotype analysis placed the critical region in a 15-CM interval defined by D1S2726 and D1S305, but no mutation of FLG was found in our IV patients.</p><p><b>CONCLUSION</b>The pathologic gene of the IV family locates near D1S2696, and the FLG gene may not ruled out from the pathologic genes.</p>

Assocation of atopic dermatitis with primary hereditary ichthyoses

The aim of this study is to find out the association of atopic dermatitis and other atopic features with primary hereditary ichthyosis [PHI] among Saudi patients in King Fahd Hospital of the University, Al-Khobar, Kingdom of Saudi Arabia. From the out-patient Department of Dermatology logbooks, all Saudi patients with clinically and histopathologically confirmed PHI seen between January 1990 and December 1995 were included in this study. Clinical findings regarding the atopic manifestations of PHI were extracted into data collection forms and computer-analyzed, using Statistical Package for Social Sciences. Over a 6-year study period, 10,455 new patients were seen in our Dermatology Clinics. Of these, 61 had PHI, there were 37 males and 24 females with a ratio of 1.5:1. Atopic dermatitis [AD], diagnosed according to Hanifin and Rajka criteria, was found in 7 [11.5%] patients of PHI; 5 of which were ichthyosis vulgaris and 2 with x-linked recessive ichthyosis. Isolated features of atopy were observed in the form of pruritus 49 [80%], elevated immunoglobulin E 27 [44.3%], dandruff 24 [39%], keratosis pilaris [KP] 15 [25%] and asthma 3 [5%]. In the present study, there was an 11.5% association between AD and PHI. However, isolated features of atopy were found in PHI in variable proportions ranging from 5-80%

Clinical Characteristics of Adolescence and Adult Atopic Dermatitis in Korea / 대한피부과학회지

BACKGROUND: Atopic dermatitis (AD) is a very common disease with peak prevalence among infants and children. Until now, adolescence and adult AD (AAD) patients have been overlooked because they were relatively small population and AAD were considered merely consecutive of infant and childhood AD. OBJECTIVE: The aim of this study is to investigate clinical characteristics of AAD in Korea and different characteristics of childhood AD. METHODS: We evaluated the clinical features of AD in 48 patients. We obtained informations about the age of onset, associated allergic diseases, aggravating factors and seasonal aggravation from the history using a standardized questionnaire. And clinical features of all subjects were evaluated by one investigator and recorded according to anatomical region. RESULTS: 23 patients (48%) reported onset of AD was after 12 years old and 25 patients (52%) reported onset before 12 years old. Only nine patients have suffered AD from infancy. 25 patients (52%) were associated with allergic asthma and/or rhinitis. Most important aggravating factor was climate with seasonal variation. Other common aggravating factors were stress, sweating, dryness and house dust. And numerous patients who experienced seasonal aggravation replied that symptoms had flared from July to August and December. The face, trunk, extremities, scalp and neck were common sites of dermatitis and most of the patients (93%) showed the facial involvement. Red face (68%) and dandruff (45%) were the most common features of the face and the scalp, respectively. About one third of the patients showed the involvement of the neck, presenting as dirty neck or dermatitis. Dryness of the trunk and eczema of flexural areas of the extremities were also common. And 13 patients had hand-foot dermatitis. Keratosis pilaris, hyperlinear palm and ichthyosis vulgaris were detected in 21 (43%), 14 (29%) and 9 patients (18%). CONCLUSION: This study shows AAD is so different from childhood AD, suggesting that AAD may not be merely consecutive of infant and childhood AD.

A Case of Pityriasis Rotunda Aggravated During Pregnancy / 대한피부과학회지

Pityriasis rotunda is an uncommon dermatosis characterized by asymptomatic, multiple, widely distributed, strikingly circular hypopigmented or hyperpigmented, scaly patches on the trunk and extremities. Histopathologic findings are consistent with ichthyosis vulgaris. It has been associated with a variety of underlying systemic diseases. We report a case of pityriasis rotunda aggravated during pregnancy.

Pityriasis Rotunda Associated with Hepatocellular Carcinoma

Pityriasis rotunda is an unusual disease characterized by perfectly circular or oval-shaped dyschromic patches with a scaling surface. Histologically, the lesions resemble those of ichthyosis vulgaris. They typically involve the abdomen, the trunk and extremities. The etiology of the disease remains unknown. Pityriasis rotunda has been most commonly associated with tuberculosis, nonlymphoproliferative neoplasms such as hepatocellular carcinoma and gastric carcinoma, and malnutrition. Rarely, hepatic cirrhosis, leprosy, endometriosis, and familial G6PD deficiency can be associated with pityriasis rotunda. We describe here a patient with pityriasis rotunda associated with hepatocellular carcinoma. Pityriasis rotunda can be a presenting sign of hepatocellular carcinoma in the setting of chronic liver cirrhosis.

A Case of Acquired Ichthyosis Associated with Diabetes Mellitus, Chronic Renal failure and Hypertension / 대한피부과학회지

Acquired ichthyosis is a rare condition and ususually occurs in adult patients with various systemic diseases and drugs that affect cholesterol metabolism. As a rule when the underlying disease goes into remission, the ichtyosis regress. Clinically and histopathologically it is similar to ichthyosis vulgaris. We report a 43-year-old man with acquired ichthyosis, who associated with diabetes mellitus, chronic renal failure and hypertension.

Four Cases of Acquired Ichthyosis after Bone Marrow Transplant / 대한피부과학회지

Acquired ichthyosis is similar to ichthyosis vulgaris clinically and histologically, but it may develop in patients with several systemic disease and secondary to multiple drugs. Acquired ichthyosis was observed in four patients who had recieved bone marrow transplantation. Immunosuppression or abnormality of the immune system after bone marrow transplants may have a role in the pathogenesis of acquired ichthyosis.

Pityriasis Rotunda Associated with Liver Cirrhosis / 대한피부과학회지

Pityriasis rotunda is an uncommon cutaneous disorder characterized by multiple asymptomatic strikingly circular hyperpigmented or hypopigmented, scaly patches on the trunk and extremities with the similar histologic appearance of ichthyosis vulgaris. The majority of cases have been reported in Japan, South Africa and West India, usually in association with an underlying systemic disease, but there are some familial cases without systemic diseases. We report a case of pityriasis rotunda with liver cirrhosis.

Análisis bioquímico y molecular de pacientes con ictiosis ligada al X y detección de portadoras / Biochemical and molecular analysis of patients and carriers of X-linked ichthyosis

La ictiosis ligada al X es una genodermatosis causada por la deficiencia de la sulfatasa esteroidea. Tiene una frecuencia de 1 por 2,000-6,000 recién nacidos vivos masculinos. Se inicia al nacimiento y se caracteriza por presentar escamas oscuras, adherentes, regulares con predominio en tronco y estremidades. El diagnóstico diferencial se realiza con la ictiosis vulgar, que tienen una frecuencia de 1 por 250 recién nacidos vivos. La determinación de la sulfatasa esteroidea clasifica a pacientes y portadoras con ictiosis ligada al X. El objetivo del presente trabajo fue establecer el diagnóstico correcto de pacientes y detección de portadoras en 10 familias con ictiosis ligada al X, amplificando mediante reacción en cadena de la polimerasa los extremos 5' y 3' del gen de la sulfatasa esteroidea y determinando la actividad de esta enzima en leucocitos utilizando el sulfato de 7-[3H]-dehidroepiandrosterona como substrato. Ningún paciente amplificó los extremos 5' y 3' del gen de la sulfatasa esteroidea, indicando la pérdida del gen en todos los casos. La determinación de la actividad de la sulfatasa esteroidea clasificó adecuadamente a pacientes (0.0 pmol/mg proteína/h) y portadoras (0.20 ñ 0.06 pmol/mg proteína/h versus 0.84 ñ 0.10 de controles sanos y pacientes con ictiosis vulgar) de ictiosis ligada al X. De esta manera, se establece la necesidad de realizar el ensayo de la sulfatasa esteroidea para el diagnóstico correcto de ictiosis ligada al X y para diferenciarla de la ictiosis vulgar e identificar a posibles portadoras de ictiosis ligada al X

Arilsulfatase C e o diagnóstico de ictiose recessiva ligada ao X / Arylsulphatase C and the diagnosis of recessive X-linked ichthyosis

Nas ictioses recessivas ligadas ao x (IRLX) ocorre deficiência ou ausência de atividade da enzima colesterol-sulfatase (arilsulfatase C). A descamaçäo da camada córnea é retardada, determinando quadro clínico característico. Com base em um caso clínico de IRLX, säo discutidos os aspectos clínicos, bioquímicos e genéticos dessa forma de ictiose