Localized Darier disease: three cases of Type 1 segmental mosaicism.

Darier disease (DD) is an autosomal dominant acantholytic dermatosis with an estimated prevalence of 1 in 30 000-100 000. A localized form of DD was first described by Kreibich in 1906 and is thought to account for 10% of all cases. A number of clinical variants have been reported including: unilateral, linear, segmental or zosteriform DD. We present a case series of three patients with localized DD.

Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi. / Nevus epidérmicos y síndromes relacionados. Parte 1: nevus queratinocíticos.

Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the first part of this review article, we will look at nevi derived specifically from the epidermis and associated syndromes.

Pápulas queratósicas múltiples acrales / Multiple Acrokeratotic Papules

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Localized Darier's disease in a Blaschkoid distribution: two cases of phenotypic mosaicism and a review of mosaic Darier's disease.

Darier's disease is a rare autosomal dominant genodermatosis. Characteristic skin and nail changes consist of bilateral crusted red-brown papules and plaques in a seborrheic distribution, and V-shaped nicking or longitudinal ridging of the nails. In limited cases, a segmental distribution of this disease may be present in which localized lesions, found along the lines of Blaschko, are otherwise indistinguishable from those of generalized Darier's disease. Genomic mosaicism in localized lesions of Darier's disease is a new concept that was recently demonstrated in individuals of mosaic phenotypes. Both type 1 and type 2 mosaic phenotypes have been reported. We report two cases of type 1 localized Darier's disease in a Blaschkoid distribution and review the genetic implications of phenotypic mosaicism within the field of Darier's disease.

Enfermedad de Darier / Darier's disease

La enfermedad de Darier es un trastorno de la queratinización de herencia autosómica dominante. Las manifestaciones clínicas suelen aparecer en la tercera década de la vida, y es muy poco frecuente su aparición en la infancia precoz. El tratamiento más eficaz es el etretinato, un retinoide oral no exento de efectos adversos, por lo que su administración debe de ser valorada según la intensidad del cuadro clínico. Se presenta el caso de un niño que comenzó a manifestar la enfermedad a los 4 años de edad, con importante afectación cutánea, y sin antecedentes familiares de interés (AU)

Darier’s disease is an autosomal dominant keratinization disorder. The clinical signs usually appear during the third decade of life; it is very rarely reported in early childhood. The most effective treatment is etretinate, an oral retinoid that is associated with adverse effects. Thus, its administration should be assessed on the basis of the severity of the clinical picture. We present the case of a boy who began to show signs of the disease at the age of 4 years, with considerable cutaneous involvement, but no familial history of interest (AU)

Eritromelanosis folicular de la cara / Erythromelanosis follicularis faciei

Las queratosis foliculares faciales suelen ser procesos variados, de mayor o menor intensidad, en los que existen pápulas queratóticas de localización folicular, cuya distribución suele ser predominantemente en las mejillas; en ocasiones, se acompañan de alopecia si están afectadas las cejas, y también de pequeñas cicatrices atróficas consecutivas a la inflamación perifolicular. Raramente se puede asociar con síndromes genéticos más o menos complejos, en los que hay diferentes hallazgos patológicos importantes que, por lo menos, deben ser investigados con una exploración y una historia clínica apropiadas (AU)

Keratosis follicularis of the face is usually a diverse process, of greater or lesser severity, in which follicular keratotic papules are present. They appear predominantly on the cheeks and are occasionally accompanied by alopecia, when the eyebrows are involved, and sometimes by small atrophic scars resulting from perifollicular inflammation. On rare occasions, it can be associated with more or less complex genetic syndromes, involving a variety of important pathological findings, that should be subjected to study, including at least a thorough examination and clinical history (AU)

Palmoplantar orthokeratotic filiform hyperkeratosis in a patient with associated Darier's disease. Classification of filiform hyperkeratosis.

We present here the third published case of palmoplantar orthokeratotic filiform hyperkeratosis of particular clinical interest because of associated Darier's disease. We propose a classification of filiform hyperkeratosis in three groups on the basis of the topography (i.e. palmar and plantar, disseminated with palmoplantar sparing and linear) and the histology (i.e. porokeratosis or orthokeratosis) of the lesions. This keratinization disorder does not seem to be a specific disease entity but rather a syndrome secondary to various disorders.

[Keratosis follicularis decalvans: nosological discussion of Siemens' disease. Apropos of 3 cases]. / Kératoses folliculaires décalvantes: discussion nosologique de la maladie de Siemens. A propos de trois cas.

We describe 3 cases of keratosis follicularis decalvans (Siemens' disease): a 15 year old boy and a 7 year old boy and his father. They represent 2 different patterns of the disease with different clinical courses and genetic background: an autosomal dominant type of good prognosis with elevated argininemia and absence of follicular atrophy in both father and son, a sporadic type, clinically severe, with follicular atrophy. This raises the question of the nosology of the so-called Siemens' disease, since it includes actually different diseases of variable prognosis.