Onset of Schamberg Disease and Resolution of Alopecia Areata During Treatment of Atopic Dermatitis With Dupilumab

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Gene Editing-Mediated Disruption of Epidermolytic Ichthyosis-Associated KRT10 Alleles Restores Filament Stability in Keratinocytes.

Epidermolytic ichthyosis is a skin fragility disorder caused by dominant-negative mutations in KRT1 or KRT10. No definitive restorative therapies exist that target these genetic faults. Gene editing can be used to efficiently introduce frameshift mutations to inactivate mutant genes. This can be applied to counter the effect of dominantly inherited diseases such as epidermolytic ichthyosis. In this study, we used transcription activator-like effector nuclease technology, to disrupt disease-causing mutant KRT10 alleles in an ex vivo cellular approach, with the intent of developing a therapy for patients with epidermolytic ichthyosis. A transcription activator-like effector nuclease was designed to specifically target a region of KRT10, upstream of a premature termination codon known to induce a genetic knockout. This proved highly efficient at gene disruption in a patient-derived keratinocyte cell line. In addition, analysis for off-target effects indicated no promiscuous gene editing-mediated disruption. Reversion of the keratin intermediate filament fragility phenotype associated with epidermolytic ichthyosis was observed by the immunofluorescence analysis of correctly gene-edited single-cell clones. This was in concurrence with immunofluorescence and ultrastructure analysis of murine xenograft models. The efficiency of this approach was subsequently confirmed in primary patient keratinocytes. Our data demonstrate the feasibility of an ex vivo gene-editing therapy for more than 95.6% of dominant KRT10 mutations.

Hiperqueratosis acral focal: correlación clínica, histopatológica y ecográfica / Correlation Between Clinical, Histopathologic, and Ultrasound Findings in Focal Acral Hyperkeratosis

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Considerations for Systemic and Topical Treatment of Morganella morganii Septicemia Arising from Maggot Infestation.

INTRODUCTION: Live maggot infestation (myiasis) of wounds can present a host of ailments. Loosely associated with maggot excreta, Morganella morganii is a widespread, gram-negative rod bacterium commonly found in the intestinal tracts of humans. M morganii has been observed as being pathogenic, particularly in nosocomial and postoperative environments, as well as in immunosuppressed and elderly populations. CASE REPORT: Herein, the authors present a rare, previously unreported case of M morganii septicemia (as confirmed by positive blood culture), secondary to myiasis of the lower extremities. The patient was successfully treated with both systemic and topical interventions. Posttreatment examination revealed resolution of myiasis and negative blood cultures. CONCLUSIONS: Myiasis can be invasive, leading to severe systemic infection. In these cases, a broad-spectrum antibiotic combined with systemic and topical antiparasitic therapy should be considered.

Nena amb plaques hiperpigmentades al coll / No disponible

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Lesiones papulosas en el escroto de larga evolución / Long-standing papules on the scrotum

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Management of Epidermolytic Ichthyosis in the Newborn.

Epidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis that presents at birth as a bullous disease, followed by a lifelong ichthyotic skin disorder. Essentially, it is a defective keratinization caused by mutations of keratin 1 (KRT1) or keratin 10 (KRT10) genes, which lead to skin fragility, blistering, and eventually hyperkeratosis. Successful management of EI in the newborn period can be achieved through a thoughtful, directed, and interdisciplinary or multidisciplinary approach that encompasses family support. This condition requires meticulous care to avoid associated morbidities such as infection and dehydration. A better understanding of the disrupted barrier protection of the skin in these patients provides a basis for management with daily bathing, liberal emollients, pain control, and proper nutrition as the mainstays of treatment. In addition, this case presentation will include discussions on the pathophysiology, complications, differential diagnosis, and psychosocial and ethical issues.

Epidermolytic Hyperkeratosis - case report

Abstract: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities.

Epidermolytic Hyperkeratosis--case report.

Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girl who presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities.

Eritema gyratum repens: no siempre una enfermedad paraneoplásica / Erythema gyratum repens: not always a paraneoplastic disease

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Enfermedad de Kyrle: reporte de un caso / Kyrle's disease: a case report

La enfermedad de Kyrle es una dermatosis perforante, poco frecuente, que predomina en adultos del sexo femenino principalmente con diabetes mellitus descompensada e insuficiencia renal crónica en hemodiálisis, de causa aún desconocida. Clínicamente es polimorfa con lesiones nodulo-queratósicas, centro crateriforme, en las extremidades inferiores con distribución ascendente y de curso crónico. Se presenta el caso de un varón de 70 años, procedente del Callao, sin antecedentes patológicos de importancia, que consulta al servicio de Dermatología por presentar lesiones pruriginosas descamativas en miembros superiores e inferiores desde hace 5 años. Al examen físico presenta pápulas y placas eritematovioláceos de superficie queratósica, duras a la palpación, huellas de rascado, principalmente a nivel de miembros superiores e inferiores. En la histopatología se observa tapón queratósico folicular con paraqueratosisfocal que se localiza en una zona de invaginación de la epidermis, que se encuentra adelgazada.

Kyrle's disease is an uncommon, perforating dermatosis prevalent in adult females mainly with decompensated diabetes mellitus and chronic renal failure on hemodialysis, being its cause remains unknown. Clinically is polymorphic with nodulokeratotics injuries, pitting in the lower extremities with chronic course upward and distribution center. The case of a man aged 70,jrom Callao no medical history of importance, consulting the dermatologist to present scaly itchy lesions 011 upper and lower limbs for 5 years is presented. Physical examination shows papules, erithematoviolaceous plaques and keratotic surface, hard to the touch, scratch marks, mainly at upper and lower limbs. Histopathology follicular keratotic plug with focal parakeratosis is observed which is located in an area of invagination of the epidermis, which is thinned.

[Generalized erythrosquamous dermatosis]. / Generalisierte erythrosquamöse Dermatose.

A 21-year-old man presented with generalized erythema, erosions and hyperkeratoses since birth. Histology revealed epidermolytic hyperkeratosis with degeneration of the upper epidermis and perinuclear deposits of abnormal keratin aggregations. Epidermolytic ichthyosis was diagnosed. This congenital Ichthyosis occurs due to mutations of keratin 1 or 10 genes that leads to defects of intra- and intercellular structural integrity in the spinous and granular layers with compensatory hyperkeratosis. After childhood, life expectancy is normal but lifelong therapeutic and skin care measures are required.

Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation.

We report the case of a 12-year-old girl presenting at birth with erythroderma, erosions and blisters scattered over the integument. By the age of 3 she presented generalized hyperkeratotic plaques with a cobblestone pattern and a pungent odour, most prominently around flexures, scalp and palmoplantar areas. Clinical, histological and ultrastructural findings confirmed the diagnosis of epidermolytic hyperkeratosis (EHK). Molecular genetic analysis revealed a mutation in the KRT10 gene. Treatment with oral acitretin was attempted but it was discontinued due to hepatic dysfunction and marked desquamation and blistering. EHK is a rare autosomal dominant disorder of keratinization, caused by mutations in either the KRT1 or KRT10 genes. Although palmoplantar keratoderma is typically found in patients with KRT1 mutation, our patient presents EHK with palmoplantar involvement and KRT10 mutation. Moreover, a poor response to systemic retinoids was observed, contrary to what is expected in patients with KRT10 mutation. Even though management is usually unsatisfactory, some patients with this lifelong and serious condition may experience improvement with age.

Moniletrix / Monilethrix

El moniletrix es una displasia pilosa poco frecuente, en la que se producen sucesivos adalgazamientos del tallo piloso, que da lugar a un pelo frágil y corto y de aspecto seco y deslustrado. Su herencia es fundamental autosómica dominante, con penetrancia incompleta y expresividad variable. Presentamos un nuevo caso, junto con una breve descripción de sus principales características

Moniletrix is an uncommon hair dysplasia in which there is a periodic thinning of the shaft, resulting in short, brittle hair with a dry, lustreless appearance. It is an autosomal dominant disorder, with incomplete penetrance and variable expressivity. We report a new case and briefly discuss the predominant characteristics of this disorder

Queratosis folicular y mieloma múltiple / Follicular keratosis and multiple myeloma

La queratosis folicular puede ser una rara enfermedad paraneoplásica de etiopatogenia desconocida, a veces asociada a mieloma, cuyo diagnóstico y evolución siguen un curso paralelo. Describimos el caso de una paciente de 57 años diagnosticada de mieloma múltiple 8 años antes, que desarrolló espículas hiperqueratósicas foliculares generalizadas coincidiendo con la leucemización del mieloma

Follicular keratosis may be a rare paraneoplastic disease having unknown etiopathogeny that is sometimes associated to myeloma whose diagnosis and evolution follow a parallel course. We describe the case of a 57-year-old female patient diagnosed of multiple myeloma 8 years ago. She developed generalized follicular hyperkeratotic spicules coinciding with leukemization of the myeloma