title: Mal de Meleda: A Focused Review.
abstract: Mal de Meleda is a rare autosomal recessive palmoplantar keratoderma (PPK) disease with an estimated prevalence of 1:100,000. Clinically, the onset of the disease is typically soon after birth and features a transgrediens (plantar surface progressing to dorsal surface) and progrediens (worsening with age) pattern of hyperkeratosis of the palms and soles. The disease can feature other potentially disfiguring effects on the hands and feet that can severely impact function. Histologically, the lesions show hyperkeratosis and acanthosis without epidermolysis in the epidermis, accompanied by perivascular lymphocytic infiltrate in the dermis. Secreted LY6/urokinase-type plasminogen activator receptor (uPAR)-related protein-1 (SLURP-1) genetic mutations are implicated in Mal de Meleda. SLURP-1 is involved in mediation of inflammation as well as keratinocyte apoptosis regulation. Because the disease is so rare, there are no set guidelines for management, but the accepted approach tends to include oral acitretin plus topical keratolytic therapy. Genetic counseling should also be offered. This focused review highlights the clinical and histological features, differential diagnoses, genetic background, and the current thoughts on management of Mal de Meleda.
authors.affiliation: University of Nevada School of Medicine, Reno, NV, USA.
authors.forename: Caroline
authors.initials: C
authors.lastname: Perez
authors.affiliation: State University of New York Downstate Medical Center, Brooklyn, NY, USA. amorkh@gmail.com.|Dermatology Service, Veterans Affairs Medical Center, 800 Poly Place, Brooklyn, NY, 11209, USA. amorkh@gmail.com.
authors.forename: Amor
authors.initials: A
authors.lastname: Khachemoune
mesh_terms: D017255:Acitretin / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use; D000950:Antigens, Ly / Q000235:genetics; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D003937:Diagnosis, Differential; D005817:Genetic Counseling; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000473:pathology / Q000628:therapy; D007641:Keratolytic Agents / Q000008:administration & dosage / Q000009:adverse effects / Q000627:therapeutic use; D009154:Mutation; D035583:Rare Diseases / Q000235:genetics / Q000473:pathology / Q000628:therapy; D016038:Skin Transplantation; D014568:Urokinase-Type Plasminogen Activator / Q000235:genetics; D014801:Vitamin A / Q000627:therapeutic use
chemical_list: D000950:Antigens, Ly; D007641:Keratolytic Agents; C048963:SLURP1 protein, human; D014801:Vitamin A; D014568:Urokinase-Type Plasminogen Activator; D017255:Acitretin