Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.

Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22. In order to identify the molecular basis of ARCI among our patients (a cohort of ninety-two Spanish individuals) we performed a mutational analysis using direct Sanger sequencing in combination with a multigene targeted NGS panel.

Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.

Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far. Mutation screening of this gene has resulted in the identification of 13 individuals, from 10 families, who carried 7 different PNPLA1 mutations.

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlations.

Background: Autosomal recessive congenital ichthyoses (ARCI) have been associated with different phenotypes including: harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While pathogenic variants in all ARCI genes are associated with LI and CIE phenotypes, the unique gene associated with HI is ABCA12. In HI, the most severe ARCI form, pathogenic variants in both ABCA12 gene alleles usually have a severe impact on protein function.

Kaposi sarcoma following postmastectomy lymphedema.

Classical Kaposi sarcoma (KS) usually appears on lower extremities accompanied or preceded by local lymphedema. However, the development in areas of chronic lymphedema of the arms following mastectomy, mimicking a Stewart-Treves syndrome, has rarely been described. We report an 81-year-old woman who developed multiple, erythematous to purple tumors, located on areas of post mastectomy lymphedema.

[Primary endometriosis: a differential diagnosis with the umbilical nodular lesions].

The onset of umbilical nodules with no previous abdominal surgeries or known endometriosis in other locations characterizes primary umbilical endometriosis. We present a 43-year-old woman with a painful umbilical nodule for several months. We report this case to emphasize the importance of the differential diagnosis of umbilical nodules, especially in women during the reproductive period.

ANCA-positive vasculitis induced by levamisole-adulterated cocaine and nephrotic syndrome: The kidney as an unusual target.

Patient: Male, 36 FINAL DIAGNOSIS: Levamisole-induced vasculopathy Symptoms: Purpuric skin lesions Medication: Levamisole Clinical Procedure: - Specialty: Internal Medicine.

Objective: Unusual clinical course.

Background: Levamisole has been detected in seized cocaine samples and a levamisole-induced vasculopathy (LIV) has been described, mainly focused on skin.

Multiple local and recent founder effects of TGM1 in Spanish families.

Background: Mutations in the TGM1 gene encoding transglutaminase 1 are a major cause of autosomal recessive congenital ichthyosis. In the Galician (NW Spain) population, three mutations, c.2278C>T, c.

Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis.

Background: Autosomal recessive congenital ichthyosis (ARCI) is a rare, nonsyndromic, heterogeneous disorder of cornification. It is divided into three clinical subtypes: lamellar ichthyosis (LI); congenital ichthyosiform erythroderma; and harlequin ichthyosis. In the majority of patients, LI is caused by transglutaminase-1 (TGase1) deficiency resulting from mutations in both copies of the transglutaminase 1 (TGM1) gene in chromosome 14.

Photosensitivity induced by naproxen.

We present two cases of systemic photosensitivity due to naproxen that presented as photodistributed erythema multiforme (EM) and lichenoid photodermatitis (LP). Although naproxen is a commonly used nonsteroidal antinflammatory drug and has the capacity of causing systemic photosensitivity, there are very few reports about it in the literature. The diagnosis was suspected by the recent ingestion of the drug and the photodistribution of the lesions.

Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain.

Background: Previous reports on the prevalence of autosomal recessive congenital ichthyosis (ARCI) were based on single source data, such as lists of members in a patient association. These sources are likely to be incomplete.

Objectives: We sought to describe the prevalence of ARCI.

Systemic photosensitivity due to Goji berries.

Systemic photosensitivity due to the intake of plants or herbal compounds is a rare phenomenon. Goji berries are widely used as a well-being and anti-aging remedy. In spite of this, only a few adverse reactions and no cases of photosensitivity have been reported to date.

Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene.

Background:   Birt-Hogg-Dubé syndrome (BHDS) is characterized by skin fibrofolliculomas (FF), multiple lung cysts, spontaneous pneumothorax, and renal cancer. Cutaneous lesions are usually distributed over the face, neck, and upper trunk. The presence of FF confined to a circumscribed region of the skin has rarely been reported.

Erythema multiforme photoinduced by paroxetine and herpes simplex virus.

Erythema multiforme (EM) is a self-limited skin disease, characterized by the abrupt onset of symmetric red papules that may evolve into target lesions often precipitated by an infection. Photosensitive erythema multiforme (PEM) is a rare disorder characterized by the distribution of the lesions on sun-exposed areas. It has been described at the sites of sunburn, following episodes of polymorphic light eruption or herpes labialis and in association with drugs.

Disseminated eruptive clear cell acanthoma with spontaneous regression: further evidence of an inflammatory origin?

Clear cell acanthoma (CCA) is a benign epidermal lesion with distinctive clinicopathological features. Multiple disseminated eruptive CCA is an infrequent clinical variant that has been rarely reported. It is characterized by the presence of more than 30 lesions from 1 to 10 mm in diameter that appear progressively over the years.

Erythema multiforme photoinduced by statins.

We report two cases of systemic photosensitivity induced by simvastatin and pravastatin that presented as photodistributed erythema multiforme. One of them occurred in a 75-year-old woman who had been suffering recurrent eruptions following sun exposures over a period of 12 years. The other patient was a 54-year-old man who had a 1-week history of pruritic lesions on the face and the hands.

Onychomycosis observed in children over a 20-year period.

There are few reports studying the aetiology of onychomycosis in children in Spain. To study childhood dermatophyte onychomycosis, a retrospective study of children was carried out, who were <16 years of age with dermatophyte onychomycosis diagnosed between 1987 and 2007. Of 4622 nail samples from 3550 patients, 218 came from 181 children up to 16 years old.

Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene.

Background: The majority of cases of Lamellar ichthyosis (LI) are caused by mutations in the transglutaminase-1 (TGM1) gene. The mutations in the beta-barrel domains of the TGM1 gene are found very infrequently and several authors have suggested that these domains are not essential for the function of the enzyme. Other authors have postulated that mutations in these loci are pathogenic but they imply a less severe clinical picture of LI.