Results 191 to 200 of about 77,152 (265)

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

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

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

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

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

Nutritional Rickets In Lamellar Ichthyosis

Journal of Young Medical Researchers, 2014
openaire   +1 more source

An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery. [PDF]

Clin Cosmet Investig Dermatol
Ghaznavi A, Borooghani H, Pahlevan Sabagh A, Aghajanlou T.   +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

The role of the skin microbiome in inherited ichthyoses: A systematic review. [PDF]

JAAD Int
Metyovinyi Z, Szondy I, Kiss N, Ostorházi E, Medvecz M.   +4 more
europepmc   +1 more source

Lamellar ichthyosis - An update.

Indian journal of dermatology, venereology and leprology, 2012
openaire   +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