Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma

ÇETİNARSLAN T., Yazıcı H., Erdoğan K. M., KALKAN UÇAR S., Dalgıç G., Kaya G., ...Daha Fazla

Pediatric Dermatology, cilt.41, sa.6, ss.1174-1178, 2024 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 41 Sayı: 6
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1111/pde.15654
  • Dergi Adı: Pediatric Dermatology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts
  • Sayfa Sayıları: ss.1174-1178
  • Anahtar Kelimeler: genodermatoses, ichthyosis
  • Manisa Celal Bayar Üniversitesi Adresli: Evet

Özet

Chanarin-Dorfman syndrome (CDS) is a multisystem autosomal recessive disorder due to variants of the ABHD5 gene, characterized by lipid vacuoles in the liver and leukocytes, and possible involvement of eyes, ears, skeletal muscle, and central nervous system. CDS may present with skin changes, most commonly congenital non- bullous ichthyosiform erythroderma, however erythrokeratoderma-like findings have been rarely reported in CDS patients. Herein, we report clinical, histopathological and genetic findings of four patients with CDS presenting with different clinical forms of erythrokeratoderma (three with progressive symmetric erythrokeratoderma-like features and one with erythrokeratoderma variabilis (EKV)-like features), including one patient with a novel mutation in ABHD5. Although the typical skin finding of CDS syndrome is reported as non-bullous congenital ichthyosiform erythroderma, CDS should also be in the differential diagnosis in patients with EKV-like lesions.