A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China

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Abstract

Rationale:

Palmoplantar keratoderma (PPK) is a genetically heterogeneous group of skin diseases, which is characterized by erythema and hyperkeratosis. Mal de Meleda (MDM) is a rare type of PPK with an estimated prevalence in the general population of 1 in 100,000.

Patient concerns:

In this study, we report a MDM patient with severe lesion in skin and flexion contractures of fingers and toes.

Diagnoses:

MDM was diagnosed based on clinical manifestations and gene test.

Interventions:

This patient was treated with oral acitretin and topical tazarotene.

Outcomes:

Physical examinations indicated that the hyperkeratosis was in remission, but the erythema was expanding to her elbows progressively. Due to the adverse events (e.g., dry eyes and lips), the patient stopped taking the oral drug.

Lessons:

MDM is a rare subtype of PPK, which is inherited in an autosomal recessive pattern and has characteristics that skin lesions on hands and feet appear soon after birth and develop progressively. MDM can lead to severe flexion contractures in some cases. The reliable method for the diagnosis of MDM is gene test.

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