Generalized epidermolytic ichthyosis with palmoplantar hyperkeratosis.

Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or 10 gene mutation. It can be classified clinically based on the presence of palmoplantar hyperkeratosis involvement and extent of skin involvement. The diagnosis is made by clinical and histopathological examinations that can be confirmed by genetic testing. We present a 2-year-old girl who presented with erythematous and thick scaling skin. Her condition began at birth as multiple flaccid blisters that would easily break into erosions. There was no history of similar condition nor consanguinity within her family. Skin examination revealed diffuse erythematous skin covered with thick scales and erosion, predominantly on her face, extremities, palms, and soles. The skin histopathology examination showed diffuse parakeratosis with vacuolar and granular degeneration within granular and spinous layers along the epidermis. She was diagnosed with generalized EI with palmoplantar hyperkeratosis based on the clinical and histopathological examinations. Clinical improvement was observed after a one-month treatment with mupirocin cream, sodium bicarbonate bath, and moisturizer after bathing.

Epidermolytic hyperkeratosis of the vulva.

Vulvar epidermolytic hyperkeratosis is a benign entity that mimics other malignant and inflammatory vulvar dermatoses clinically and histologically requiring careful clinical pathologic correlation for diagnosis.

Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity.

BACKGROUND: Annular epidermolytic ichthyosis (AEI) is a rare autosomal dominant ichthyosis that was recently described in 10 separate families in the English literature. There are no reports on the phenotypic heterogeneity of AEI. OBJECTIVES: We investigated, for the first time, a large Chinese AEI pedigree exhibiting interfamilial phenotypic heterogeneity. MATERIALS AND METHODS: We collected clinical data and DNA from the members of the family, and skin lesions were obtained from two patients with different phenotypes. Skin imaging examinations were performed. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene mutations. RESULTS: The characteristic features of granular layer degeneration in the two biopsies were verified via histological methods. The missense mutation c.1436T > C in KRT1 was detected in all nine patients. CONCLUSION: This study demonstrates that AEI may present with different clinical phenotypes and that mutation analysis for suspected cases is necessary to obtain a precise diagnosis.

Eritrodermia ictiosiforme congénita ampollosa: a propósito de un caso / Congenital bullous ichthyosiform erythroderma

La eritrodermia ictiosiforme congénita ampollosa es una entidad poco frecuente, con herencia autosómica dominante, pero un 50% se presenta por mutaciones de novo; se caracteriza en su fase inicial por eritrodermia y aparición espontánea de ampollas. Posteriormente las ampollas disminuyen en frecuencia y aparece una descamación que compromete toda la superficie corporal. No suele haber afectación palmoplantar ni de las mucosas. Su tratamiento de primera línea son los retinoides sistémicos junto a los cuidados de la piel

Congenital bullous ichthyosiform erythroderma is a rare entity, with autosomal dominant inheritance, but in 50% of cases it is presented by de novo mutations; is characterized in its initial phase by erythroderma and spontaneous appearance of blisters. Subsequently the blisters decrease in frequency and appears a scaling that compromises the entire body surface. There is usually no palmoplantar or mucosal involvement. Its first-line treatment is systemic retinoids along with skin care

Osteomielitis infecciosa crónica: un diagnóstico más allá de la piel / Chronic infectious osteomyelitis: A diagnosis beyond the skin

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Milia, una reacción infrecuente tras terapia fotodinámica / Milia: An Uncommon Reaction to Photodynamic Therapy

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A novel association of pseudoainhum and epidermolytic ichthyosis, successfully treated with full thickness skin graft after failed z-plasty repair.

Pseudoainhum is a rare constriction band variant thatmay progress to spontaneous digital strangulationand auto-amputation. Although its association withpalmoplantar keratodermas is well established, ithas not been reported in conjunction with classicepidermolytic ichthyosis. We describe the first suchcase in a 25-year-old woman who presented witha painful constricting band of the fifth toe. We alsodescribe her treatment course, which consisted ofa failed z-plasty, the traditional therapeutic optionfor acute pseudoainhum, and report the success ofsubsequent full thickness skin graft, suggesting thebenefit of this procedure as a therapeutic alternativefor patients with pseudoainhum.

Dermatosis inflamatorias asociadas a radioterapia / Inflammatory skin conditions associated with radiotherapy

La radioterapia es una técnica de uso creciente en el campo de la oncología. Debido al alto recambio celular cutáneo, la radiación ionizante afecta colateralmente a la piel y encontramos de forma frecuente dermatosis inflamatorias asociadas a radioterapia. Algunos de estos cuadros, como la radiodermitis o el fenómeno de recall, son bien conocidos por el dermatólogo. Es importante reconocer otros cuadros cutáneos asociados a radioterapia que aparecen de forma menos frecuente y que en muchas ocasiones son infradiagnosticados

Radiotherapy for cancer is used increasingly. Because skin cells undergo rapid turnover, the ionizing radiation of radiotherapy has collateral effects that are often expressed in inflammatory reactions. Some of these reactions-radiodermatitis and recall phenomenon, for example-are very familiar to dermatologists. Other, less common radiotherapy-associated skin conditions are often underdiagnosed but must also be recognized

Mucinosis nodular asociada a gammapatía monoclonal de cadenas ligeras de significado incierto / Nodular mucinosis associated with light-chain monoclonal gammopathy of uncertain significance

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Dermatoscopia de leishmaniasis cutánea aguda / Dermoscopy of acute cutaneous leishmaniasis

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Signo de Holster como manifestación inicial de una dermatomiositis / Holster sign as initial manifestation of dermatomyositis

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Nena amb plaques hiperpigmentades al coll / No disponible

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Treatment of nail psoriasis with Pulse Dye Laser plus calcipotriol betametasona gel vs. Nd:YAG plus calcipotriol betamethasone gel: an intrapatient left-to-right controlled study / Tratamiento de psoriasis ungueal con Pulse dye laser frente a Nd: YAG, en asociación con gel de betametasona: un estudio con control intrapaciente izquierda-derecha

BACKGROUND: Treatment of nail psoriasis remains a challenging and often disappointing situation. OBJECTIVE: To compare the efficacy, adverse reactions and tolerability of treatment of nail psoriasis with PDL vs. Nd:YAG, in association with betametasona calcipotriol gel. METHODS: An open, prospective intrapatient left-to-right study was designed. The right hand of each patient received treatment with PDL and the left hand with Nd:YAG. Betamethasone calcipotriol gel was applied once a day during the first week after each laser session. A total of four sessions were administered. RESULTS: The clinical efficacy was evaluated according to the NAPSI score. All patients showed improvement in nail bed and nail matrix psoriasis. The global NAPSI mean declined in 15.46 (p < 0.000). There was neither statistical difference between the reduction in nail bed and matrix NAPSI nor in the treatment with PDL vs. Nd:YAG. The administration of Nd:YAG was more painful. No serious adverse effects were documented. Limitations. No random assignment and the small number of patients. CONCLUSIONS: PDL and Nd:YAG have proven to be an effective treatment for nail psoriasis with no serious adverse effect. No statistically significant difference was found between the two treatments

ANTECEDENTES: El tratamiento de la psoriasis ungueal es una situación de difícil manejo y a menudo decepcionante para el dermatólogo. OBJETIVO: Comparar la eficacia, las reacciones adversas y la tolerabilidad del tratamiento de la psoriasis ungueal con PDL vs. Nd: YAG en asociación con gel de betametasona calcipotriol. MÉTODOS: Estudio prospectivo abierto con control intrapaciente izquierda-derecha. La mano derecha de cada paciente recibió tratamiento con PDL y la mano izquierda con Nd: YAG. Se aplicó gel de betametasona calcipotriol una vez al día durante la primera semana después de cada sesión de láser en las 2 manos. Se administraron un total de 4 sesiones. RESULTADOS: La eficacia clínica se evaluó de acuerdo con la escala NAPSI. Todos los pacientes mostraron una mejoría en las lesiones del lecho y de la matriz ungueal. La media global del NAPSI disminuyó en 15,46 (p < 0,000). No hubo diferencia significativa entre la mejoría de las lesiones del lecho y la matriz ni en el tratamiento con el PDL vs. Nd: YAG. La administración de Nd: YAG fue más dolorosa. No se documentaron efectos adversos graves. Limitaciones. Falta de asignación aleatoria y muestra pequeña. CONCLUSIONES: PDL y Nd: YAG han demostrado ser tratamientos eficaces para la psoriasis ungueal sin documentarse efectos adversos graves. No se encontró diferencia estadística significativa entre los 2 tratamientos

Elconixis por isotretinoína / Isotretinoin-induced elkonyxis

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