Results 141 to 150 of about 5,713 (219)

Mfsd2a is important for maintaining epidermal homeostasis. [PDF]

Proc Natl Acad Sci U S A
Wong BH, Mishra K, Chin CF, Galam DLA, Tan BC, Ding M, Torta F, Behmoaras J, Chua AWC, Silver DL.   +9 more
europepmc   +1 more source

Expanding the clinical spectrum: A case report of the first Jordanian presentation of KID syndrome with neurological and skeletal anomalies beyond the classical triad. [PDF]

Medicine (Baltimore)
Al-Bustanji R, AlRababah BK, Rumman MSA, Abukhaled Y, Al-Rabadi N, Younis HKB, Ghalyon G, Al-Tawalbeh S, Aloudat O, Alrashdan MMM, Yamin MT, Maaita M, Salah AKD, Satari A.   +13 more
europepmc   +1 more source

Netherton Syndrome With Trichorrhexis Invaginata "Bamboo Hair" Under Dermoscopy: Case Images. [PDF]

Clin Case Rep
Nagshabandi KN, Alsalhi A.
europepmc   +1 more source

Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link. [PDF]

JAAD Case Rep
Han JY, Vallerand IA, Shah A, Schneider MM, Robertson LH.   +4 more
europepmc   +1 more source

Multilocus Genetic Variants in a Child With Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3-q32.11 Deletion. [PDF]

Clin Case Rep
Dababseh BH, Ghnimat AS, AbuHamdiya LW, Atatre MH, Batran A, Suboh MW.   +5 more
europepmc   +1 more source

Unusual Dermatological and Neurological Presentation in a 10-Year-Old Boy.

Indian J Dermatol
Mendiratta V, Verma D, Sonker S.
europepmc   +1 more source

Case Report: A family with X-linked ichthyosis identified by secondary findings of non-invasive prenatal testing. [PDF]

Front Med (Lausanne)
Li S, Chen F, Li L, Zhang M, Li H, Feng S, Ruan X, Zhao Q.   +7 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

Successful Treatment of Two Rare Pediatric Keratinization Disorders with Secukinumab: Epidermolytic Ichthyosis and PRP-GPP Overlap. [PDF]

Psoriasis (Auckl)
Xu Q, Zhang J.
europepmc   +1 more source