Results 111 to 120 of about 190,206 (158)

Harlequin ichthyosis in a newborn: a rare and severe congenital ichthyosis. [PDF]

Pan Afr Med J
Tamgadge A, Gomase K.
europepmc   +1 more source

Video Demonstration of ABCA12-Related Harlequin Ichthyosis in a Low-Resource Setting: Case Report and Review of Early Management Challenges. [PDF]

Clin Case Rep
Elendu C, Amaechi DC, Elendu TC, Amaechi EC, Elendu ID, Okolo EH, Uyanwune MC.   +6 more
europepmc   +1 more source

A Mild Phenotype of Nonsyndromic Epidermal Differentiation Disorder in a Compound Heterozygous Patient With a Novel NIPAL4 Frameshift Variant (p.Ser231Argfs*4). [PDF]

J Dermatol
Tanaka H, Yamamura K, Tanahashi K, Noda T, Takeichi T, Akiyama M, Dainichi T.   +6 more
europepmc   +1 more source

Founder effect and clinical heterogeneity of SLC27A4-related non-syndromic EDD in Réunion. [PDF]

J Eur Acad Dermatol Venereol
Miquel J, Deblock C, Ventejou S, Espagnon C, Spodenkiewicz M, Boumahni B, Charbit-Henrion F, Hadj-Rabia S.   +7 more
europepmc   +1 more source

Congenital Bilateral Ectropion in Collodion Infants: A Case Series. [PDF]

Cureus
Karn MK, Kusumesh R, Bhaskar G, Adhikari A.   +3 more
europepmc   +1 more source

Bathing suit ichthyosis: a case report of a 13-year-old boy with unique clinical features and genetic insights from Syria. [PDF]

Ann Med Surg (Lond)
Jazmati A, Al-Jawad M, Khalaf F, Alhakim N, Almohamad S, Bardizbanian R, Ahdali R, Ishkanian S.   +7 more
europepmc   +1 more source

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis. [PDF]

Front Immunol
Sefer AP, Catak MC, An I, Keser Ozturk N, Baykal Selcuk L, Dincer OS, Benamar M, Getachew F, Schmitz-Abe K, Agrawal PB, Bayram Catak F, Erman B, Bilgic Eltan S, Karakoc Aydiner E, Ozen A, Chatila T, Baris S.   +16 more
europepmc   +1 more source

Neonatal Erythroderma: Diagnostic Challenges and the Limitations of Genetic Testing. [PDF]

Cureus
Phipps J, Popescu O.
europepmc   +1 more source

Lepidoptera Lexicon: Metaphorical Descriptors in Dermatology. [PDF]

Indian Dermatol Online J
Sivasankari R, Vanila M, Logamoorthy R, Karthikeyan K.   +3 more
europepmc   +1 more source

Atypical case of neonatal-onset Gaucher disease type 3b: A case report. [PDF]

Mol Genet Metab Rep
Onuki T, Kojima K, Sawano K, Shibata N, Ogawa Y, Hasegawa G, Narita A, Nyuzuki H.   +7 more
europepmc   +1 more source