Cutaneous clues in inherited metabolic disorders: insights from a single-center cohort
Archives of Dermatological Research, cilt.318, sa.1, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 318 Sayı: 1
- Basım Tarihi: 2026
- Doi Numarası: 10.1007/s00403-026-04927-7
- Dergi Adı: Archives of Dermatological Research
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest), Pharma Collection (ProQuest)
- Anahtar Kelimeler: Dermatology, Dermatoses, Inherited metabolic disorders, Skin findings
- Ankara Üniversitesi Adresli: Evet
Özet
Inherited metabolic disorders (IMDs) are a group of rare, multisystemic diseases that often require lifelong surveillance. Although systemic manifestations dominate the clinical picture, dermatological findings can serve as early diagnostic cues or indicators of treatment efficacy. We conducted a retrospective cohort study at Ankara University. Department of Pediatric Metabolism, evaluating 252 patients with skin involvement among 1,012 IMDs cases followed between 2012 and 2025. Demographic, biochemical, and clinical data were extracted from medical records. Dermatological findings were categorized and analyzed according to IMD subtypes. Representative cases were visually documented with informed consent. Descriptive statistics were employed to explore frequency patterns. Among the 1,012 patients diagnosed with inherited metabolic disorders (IMDs), dermatological involvement was identified in 24.9% (n = 252). Of these patients, 53.2% were male and 46.8% were female, with a median age of 7.7 years [4.3–12.2]. Cutaneous findings were most frequently observed in patients with aminoacidopathies (22.2%), biotinidase deficiency (19.4%), and lysosomal/peroxisomal storage disorders (13.1%). The most prevalent lesion type was eczematous/inflammatory eruptions (66.1%). Other distinctive dermatological features included persistent Mongolian spots, hyperpigmentation, hypopigmentation, hypertrichosis, xanthomas, ichthyosis, total alopecia, nail dystrophies, vascular lesions, structural anomalies (e.g., inverted nipples, lipodystrophy), and reduced skin elasticity. While some of these findings were directly attributable to the underlying inherited metabolic disorder, others were secondary to treatment modalities, particularly dietary restrictions involving protein or carbohydrate limitation. Dermatological findings are present in one out of four IMD patients and may offer essential diagnostic and monitoring value. Recognizing these manifestations—ranging from inflammatory rashes to ichthyosiform patterns and pigmentary changes—can enhance diagnostic precision. Dermatologic evaluation should be an integral part of routine care for IMD patients.