Linear IgA Bullous Dermatosis: A Series of 17 Cases. / Dermatosis ampollar IgA lineal: serie de 17 casos.

Linear IgA bullous dermatosis is an acquired subepidermal immunoglobulin-mediated vesiculobullous disease. In this retrospective, observational, descriptive study, we describe the clinical characteristics, treatments, and outcomes of 17 patients with linear IgA bullous dermatosis. Two children had been vaccinated 2 weeks before the onset of symptoms, 2 had had bronco-obstructive respiratory symptoms, and 1 had received intravenous antibiotic therapy. We also observed an association with autoimmune hepatitis in one patient and alopecia areata in another. One boy had VACTERL association. Diagnosis was confirmed by histopathology and direct immunofluorescence. Sixteen patients were treated with dapsone, which was combined with oral corticosteroids in 8 cases and topical corticosteroids in two. Of note in this series was the occurrence of relapses in the perioral area coinciding with infections and vaccination, and the association between linear IgA bullous dermatosis and autoimmune hepatitis and VACTERL association.

Cardiomyopathy in Patients With Hereditary Bullous Epidermolysis. / Miocardiopatía en pacientes con epidermólisis ampollosa hereditaria.

INTRODUCTION AND OBJECTIVE: In recent decades, an association has been reported between epidermolysis bullosa (EB) and dilated cardiomyopathy (DC). DC is typically in an advanced phase when detected, leading to a poorer prognosis. Our objective was to determine the prevalence of DC in patients with EB seen in Hospital San Joan de Déu in Barcelona, Spain, between May 1986 and April 2015. METHODS: This was a descriptive, cross-sectional chart-review study in which we recorded the type and main subtypes of EB and the presence or absence of DC. RESULTS: Fifty-seven patients with EB were found, 19 with EB simplex, 10 with junctional EB, 27 with dystrophic EB (14 dominant dystrophic and 13 recessive dystrophic), and just 1 with Kindler syndrome. DC was detected in only 2 patients with recessive dystrophic EB. Twenty-three patients had presented factors that could have had a causal relationship with the potential onset of DC. CONCLUSION: DC is a possible complication of EB, particularly in recessive dystrophic EB. Periodic follow-up should be performed to make an early diagnosis and start treatment.

Nail-patella syndrome: report of 11 pediatric cases.

BACKGROUND: Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X-ray. It is useful to know this syndrome since some patients develop nephropathy and eye abnormalities. There are very few accurate descriptions related to this syndrome in the literature. OBJECTIVE: Describe the features of 11 patients with NPS in a paediatric hospital. METHODS: We retrospectively reviewed our clinical database of 11 patients with proven diagnosis of NPS from 1977 to 2014. Clinical and radiological features were assessed. RESULTS: Eleven children (seven male/four female) were included in the study. Mean age at the time of diagnosis was 6.54 years (range 0-11 years). Five patients had a family history of NPS. All patients had nail abnormalities (100%), the most frequent finding being hyponychia. Triangular lunulae were observed in four patients. The knee was the most commonly affected joint, aplasia or hypoplasia of the patella being the most usual findings. Only one patient presented renal involvement. The genetic study revealed three different LMX1B mutations. CONCLUSION: Nail-patella syndrome is a rare disorder. The aim of the present study is to highlight the importance of nail examination in children with skeletal dysplasias, in order to diagnose the NPS.

Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

Three overlapping conditions, namely Rothmund-Thomson (RTS), Baller-Gerold (BGS) and RAPADILINO syndromes, have been attributed to RECQL4 mutations. Differential diagnoses depend on the clinical presentation, but the numbers of known genes remain low, leading to the widespread prescription of RECQL4 sequencing. The aim of our study was therefore to determine the best clinical indicators for the presence of RECQL4 mutations in a series of 39 patients referred for RECQL4 molecular analysis and belonging to the RTS (27 cases) and BGS (12 cases) spectrum. One or two deleterious RECQL4 mutations were found in 10/27 patients referred for RTS diagnosis. Clinical and molecular reevaluation led to a different diagnosis in 7/17 negative cases, including Clericuzio-type poikiloderma with neutropenia, hereditary sclerosing poikiloderma, and craniosynostosis/anal anomalies/porokeratosis. No RECQL4 mutations were found in the BGS group without poikiloderma, confirming that RECQL4 sequencing was not indicated in this phenotype. One chromosomal abnormality and one TWIST mutation was found in this cohort. This study highlights the search for differential diagnoses before the prescription of RECQL4 sequencing in this clinically heterogeneous group. The combination of clinically defined subgroups and next-generation sequencing will hopefully bring to light new molecular bases of syndromes with poikiloderma, as well as BGS without poikiloderma.

Early-onset acral basal cell carcinomas in Gorlin syndrome.

Two patients are reported in whom early-onset, distal papules with a histopathological diagnosis of basal cell carcinoma were the first manifestation of Gorlin syndrome (GS). These lesions showed no progression and remained stable through follow-up. Two different PTCH1 gene mutations were detected in the two patients, and thus a phenotype-genotype correlation of this manifestation of GS was not possible.

Prevalencia de la epidermólisis ampollosa distrófica en España: estudio poblacional usando el método de captura-recaptura con 3 fuentes de datos. Evidencia de la necesidad de mejora en la atención sociosanitaria / Prevalence of Dystrophic Epidermolysis Bullosa in Spain: A Population-Based Study Using the 3-Source Capture-Recapture Method. Evidence of a Need for Improvement in Care

Antecedentes: No existen datos sobre la prevalencia de la epidermólisis ampollosa distrófica en España (EAD). La EAD es una enfermedad rara que conlleva una gran carga para el paciente que la sufre y para el sistema de salud que le atiende. Objetivo: Describir la prevalencia de la EAD en España. Métodos: Hemos empleado datos procedentes de 3 fuentes incompletas de pacientes: departamentos de Dermatología, 2 laboratorios de diagnóstico y la Asociación española de pacientes con epidermólisis ampollosa, DEBRA España, y los hemos combinado usando el método de captura-recaptura. Resultados: Hemos identificado 152 pacientes vivos. La prevalencia estimada de EAD fue de 6,0 casos por millón de habitantes (IC 95%: 4,2-11,8). La prevalencia en niños menores de 18 años fue de 15,3 por millón (IC 95%: 10,4-40,8). De acuerdo con el modelo de captura-recaptura el 77% no son seguidos en unidades de referencia, el 65% no tienen diagnóstico genético y el 76% no pertenecen a DEBRA. Conclusiones: La prevalencia de EAD en España es de 6,0 pacientes por millón de habitantes (IC 95%: 4,2 a 11,8), un número mayor que el estimado en otras zonas del mundo, pero similar a otros encontrados en otros países del Sur de Europa. Este resultado puede ser debido a auténticas variaciones geográficas, o a que los otros registros recogen un número incompleto de casos. La mayoría de los pacientes no son seguidos en unidades de referencia, no tienen diagnóstico genético y no son miembros de la asociación de pacientes, lo cual quiere decir que su situación sociosanitaria es muy mejorable (AU)

Background: Dystrophic epidermolysis bullosa (DEB) is a rare disease that represents a heavy burden for both the patient and the health care system. There are currently no data on the prevalence of DEB in Spain. Objective: To determine the prevalence of DEB in Spain. Methods: We used data from 3 incomplete population-based sources (hospital dermatology departments, diagnostic laboratories performing antigenic mapping, genetic testing or both, and the Spanish Association of Epidermolysis Bullosa Patients [DEBRA]) and combined them using the 3-source capture–recapture methodology. Results: We identified 152 living DEB patients. The estimated prevalence of DEB was 6.0 cases per million (95% CI, 4.2–11.8) in adults and 15.3 (95% CI, 10.4–40.8) in children under 18 years of age. The data indicated that 77% of the patients were not being followed up in specialized centers of reference; 65% had not had a genetic diagnosis, and 76% were not members of DEBRA. Conclusions: The prevalence of DEB in Spain is 6.0 patients per million (95% CI, 4.2–11.8), a figure higher than previous estimates in many areas, but similar to those found in other southern Europe countries. The north–south difference may represent real geographic differences in prevalence, but it might be due to the fact that most of the data come from registries with a lower than expected catchment. Many patients are not being followed up in centers of reference, do not have genetic diagnosis, and are not members of patients’ associations, suggesting that there is room for considerable improvement in their care (AU)

Molluscum contagiosum congénito / Congenital Molluscum Contagiosum

No disponible

Prevalence of dystrophic epidermolysis bullosa in Spain: a population-based study using the 3-source capture-recapture method. Evidence of a need for improvement in care.

BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a rare disease that represents a heavy burden for both the patient and the health care system. There are currently no data on the prevalence of DEB in Spain. OBJECTIVE: To determine the prevalence of DEB in Spain. METHODS: We used data from 3 incomplete population-based sources (hospital dermatology departments, diagnostic laboratories performing antigenic mapping, genetic testing or both, and the Spanish Association of Epidermolysis Bullosa Patients [DEBRA]) and combined them using the 3-source capture-recapture methodology. RESULTS: We identified 152 living DEB patients. The estimated prevalence of DEB was 6.0 cases per million (95% CI, 4.2-11.8) in adults and 15.3 (95% CI, 10.4-40.8) in children under 18 years of age. The data indicated that 77% of the patients were not being followed up in specialized centers of reference; 65% had not had a genetic diagnosis, and 76% were not members of DEBRA. CONCLUSIONS: The prevalence of DEB in Spain is 6.0 patients per million (95% CI, 4.2-11.8), a figure higher than previous estimates in many areas, but similar to those found in other southern Europe countries. The north-south difference may represent real geographic differences in prevalence, but it might be due to the fact that most of the data come from registries with a lower than expected catchment. Many patients are not being followed up in centers of reference, do not have genetic diagnosis, and are not members of patients' associations, suggesting that there is room for considerable improvement in their care.

Facial telangiectasia: an unusual manifestation of neonatal lupus erythematosus.

Neonatal lupus erythematosus (NLE) is an uncommon condition usually associated with maternal anti-Ro autoantibodies. The cutaneous lesions of NLE are usually transient, disappearing about six months after birth, but telangiectasia is a rare complication of NLE which persists. Telangiectasias are small focal red macules and papules created by abnormally prominent capillaries, venules, and arterioles and are a characteristic marker of connective tissue diseases. We report the case of an infant diagnosed with NLE presenting typical annular lesions, positive ANA and positive anti-Ro antibodies. By five months of age, both ANA and anti-Ro antibodies were negative and the annular cutaneous lesions had gradually faded, but small scattered focal red macules appeared on the face, especially in the peri-orbital area and scalp. The cutaneous lupus disappeared but the telangiectasia persisted. We would like to suggest that the diagnosis of NLE should be considered when cutaneous telangiectasias are observed in infants.

Incontinentia pigmenti and bipolar aphthosis: an unusual combination.

Incontinentia pigmenti (IP) is an uncommon X-linked dominant multisystem disorder, lethal in the majority of affected males in utero and variably expressed in females. The cutaneous manifestations are diagnostic and classically occur in four stages: vesicular, verrucous, hyperpigmented, and atrophic. The skin lesions are typically spread along the lines of Blaschko, and they are usually present at birth. It may be variably accompanied by dental, ocular, neurologic, bones and joints, and development anomalies. The genes IP has been mapped to Xq28. Mutations in the NEMO/IKKγ gene, located at Xq28, have been found to cause expression of the disease. Behçets disease is a multisystem disorder consisting of recurrent oral aphtae, genital ulcers, pustular skin eruption, and uveitis. Occasionally there are other articular, neurological, intestinal, or vascular abnormalities. This disease is rare in children. Here, we report a case of a 16-year-old female with the rare combination of incontinentia pigmenti and an aphthosis bipolar, and we discuss the probably relationship between these two diseases.

Porokeratotic eccrine ostial and dermal duct naevus: report of 10 cases.

BACKGROUND: Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a congenital hamartoma that has rarely been documented. OBJECTIVES: To describe the clinical and histological features of 10 patients with PEODDN. METHODS: A retrospective study of 10 patients with PEODDN attended in our paediatric hospital between 1999 and 2009 was performed. The clinical and histopathological features were reviewed. RESULTS: Nine children and one adult were included in the study. In 6 cases the lesion was present at birth and they were unique in 5 cases and systematized in the other 5 cases. Two cases in the same family are reported. The lesions were most commonly found on the extremities, although the palms or soles were involved in 9 cases and only in one case there was not affection of this area. The lesions were mostly asymptomatic but there was moderate itching in two cases. Clinical examination revealed no extracutaneous involvement. CONCLUSIONS: PEODDN is a rare disorder that usually appears at birth or early childhood. It has a linear distribution following the Blaschko lines. To our knowledge this is the largest series reported in English literature and we also describe the first family case.

[The clinical spectrum of cutaneous neonatal lupus erythematosus]. / Espectro clínico del lupus eritematoso neonatal cutáneo.

BACKGROUND: Neonatal lupus erythematosus (NLE) is an uncommon disease described mainly through isolated case reports and a few published series. OBJECTIVE: To examine the clinical and serological spectrum, and course of the disease in neonates with NLE and cutaneous involvement. METHODS: A retrospective study was performed that included all children with NLE that came to the Dermatology Department between 1995 and 2006. RESULTS: Eight children with a diagnosis of NLE with cutaneous involvement were identified, with a male:female ratio of 3:1. Anti-Ro antibodies were found in all cases and no cases with anti-RNP antibodies were found. Facial lesions were observed in all cases and in 7 cases the skin eruptions cleared within 4.3 months; the remaining patient was still in follow up when the data were collected. The clinical course of patients who were followed up was satisfactory. CONCLUSIONS: In our series, NLE was three times more frequent in males. Involvement of sun-exposed areas, such as the face with annular lesions was the most common finding. We found one case of NLE with cutaneous involvement and persistent ductus arteriosus. Anti-Ro antibodies were found in all cases and skin eruptions cleared by 7 months of age, concurrent with the waning of the maternally derived antibodies. Four of the mothers were asymptomatic and unaware of their condition, emphasizing the importance of following up these patients due to the possibility of developing an autoimmune disease.