No abstract available.
Erythrokeratodermia Variabilis

Introduction: Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, usually autosomal dominant disorder characterized by co-existence of erythematous to hyperpigmented scaly plaques and stationary or migratory patches symmetrically distributed on the face, buttocks and extremities. Case summary: This report describes an 8-month-old Filipino female infant who initially presented at 13 days old with erythematous scaly patches on the scalp, periorbital, perioral, and genital areas. These patches progressed to multiple erythematous plaques with well-defined erythematous to hyperpigmented border, some topped with hemorrhagic and yellowish crusts and scales on the scalp, face, neck, upper and lower extremities, genital and gluteal area. Histologic examination of the skin showed dense aggregates of neutrophils in the stratum corneum, parakeratosis, mild spongiosis, and irregular acanthosis. There were focal areas of hypogranulosis underneath the areas of parakeratosis; however, other areas showed normal granular cell layer. The dermis showed moderate superficial perivascular lymphohistiocytic cell infiltrates with melanophages. Histopathologic changes were nonspecific but may be consistent with EKVP. Patient was initially treated with IV antibiotics; however lesions continued to progress. She was then started on oral acitretin, resulting to improvement of lesions. Conclusion: A Filipino girl with erythrokeratodermia variabilis et progressiva is reported. The knowledge of this disease and its treatment will allow clinicians to promptly initiate treatment and monitor treatment side effects
Erythrokeratodermia variabilis ;

We describe a 8-year-old girl with erythrokeratodermia varibilis (EKV). This diagnosis was supported by erythematous, configurate patches over the entire body. Their size, shape and location varyed with enviromental factors and emotional state. In addition, well defined brownish, hyperkeratotic plaques were scattered over the trunk and extremities. Also, this patient had alopecia universalis, which is not typical of EKV. Etretinate therapy resulted in an almost complete clinical clearing of the plaques; however, her alopecia universalis and erythematous lesions were not affected.
Acitretin ; Alopecia* ; Child ; Diagnosis ; Erythrokeratodermia Variabilis* ; Etretinate ; Extremities ; Female ; Humans

Erythrokeratodermia variabilis is an autosomal-dominant inherited disease associated with a mutation in gap junction beta (GJB) 3 and 4. It shows two characteristic features: migratory and irregularly shaped erythematous lesions usually accompanied by a burning sensation and fixed, symmetrically located hyperkeratotic plaques. A 6-year-old boy had developed erythematous scaly patches with a geographic pattern on the entire body at age 1, and the lesions had migrated with an irregular pattern. Accompanying hyperkeratotic plaque developed on the trunk and both legs when he was 4 years old. As he grew older, the erythematous patches progressively disappeared and the hyperkeratotic plaque dominantly remained. His family history was unidentifiable because he was adopted at birth. Pathologic findings showed hyperkeratosis and superficial perivascular inflammation. Based on the clinical and pathologic features, we diagnosed erythrokeratodermia variabilis in this patient. Herein, we report a case of erythrokeratodermia variabilis showing gradual disappearance of erythema.
Burns ; Child ; Erythema* ; Erythrokeratodermia Variabilis* ; Gap Junctions ; Humans ; Inflammation ; Leg ; Male ; Parturition ; Sensation

Erythrokeratodermia variabilis is a rare genodermatosis characterized by the coexistence of randomly occurring, transient, erythematous patches and hyperkeratosis of the skin. A 25-year-old Uzbekistanian female with congenital deaf-mutism presented with well demarcated geographic hyperkeratotic patches and bizarre erythema on the whole body surface except the face, hands and feet from birth. The histopathological examination revealed marked hyperkeratosis, moderate acanthosis in the epidermis and vascular dilatation with a perivascular infiltration of inflammatory cells in the upper dermis. Herein we report on a rare case of erythrokeratodermia variabilis with congenital deaf-mutism which was rapidly improved by administering acitretin.
Acitretin ; Adult ; Deafness ; Dermis ; Dilatation ; Epidermis ; Erythema ; Erythrokeratodermia Variabilis ; Female ; Foot ; Hand ; Humans ; Parturition ; Skin

Adult ; Connexin 43 ; genetics ; Erythrokeratodermia Variabilis ; genetics ; Female ; Heterozygote ; Humans ; Male ; Mutation ; genetics ; Mutation, Missense ; genetics ; Pedigree

Acanthosis Nigricans ; pathology ; Adolescent ; Adult ; Diagnosis, Differential ; Erythrokeratodermia Variabilis ; pathology ; Female ; Humans ; Keratoderma, Palmoplantar ; pathology ; Male ; Middle Aged ; Retrospective Studies ; Young Adult