Mal de Meleda: A late-diagnosed family with a pathogenic variant not reported from Turkey

Karaca Z., YAYLI S., Bahadir S.

TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY, cilt.55, sa.1, ss.41-44, 2021 (ESCI) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 55 Sayı: 1
  • Basım Tarihi: 2021
  • Doi Numarası: 10.4274/turkderm.galenos.2020.41882
  • Dergi Adı: TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.41-44
  • Anahtar Kelimeler: Mal de Meleda, palmoplantar keratoderma, SLURP1, rare diseases, autosomal recessive diseases
  • Atatürk Üniversitesi Adresli: Hayır

Özet

Mal de Meleda (MDM), also called keratoderma palmoplantaris transgrediens, is a rare autosomal recessive palmoplantar keratoderma with an estimated prevalence of 1:100,000. Genetic mutations affecting SLURP-1 play a role in MDM. It typically starts shortly after birth and is characterized by hyperkeratosis extending from the palmoplantar region to the dorsal surfaces that worsens with age. MDM can lead to severe functional limitations involving the hands and feet and psychosocial problems. The rarity of the condition can lead to misdiagnoses and unsuitable treatments, with MDM commonly mistaken for psoriasis due to the involvement of the elbows and knees. This report presents the case of a family affected by MDM who had a pathogenic variant previously not reported in Turkey, been followed up with the diagnosis of psoriasis for several years, and received a late diagnosis where systemic acitretin achieved satisfactory clinical improvement.