Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study reported dramatic improvements in five collodion baby patients with lamellar ichthyosis treated with oral retinoic acid, noting hair loss as the sole adverse effect, emphasizing the treatment's promising efficacy for physicians.

This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.

These guidelines review the management of complications and specific forms of congenital ichthyosis and report no new results; they summarize expert and evidence-based recommendations for clinicians.

This narrative literature review examined how linking embryonic development with non-genetic skin anomalies can improve diagnostic accuracy, guide prenatal counseling, and enrich dermatology education by revealing specific vulnerabilities in skin morphogenesis and supporting advances in regenerative medicine.

This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.