Results 101 to 110 of about 50,551 (154)

A Case Report of Ichthyosis Lamellar Syndrome

پزشکی بالینی ابن سینا, 2014
Introduction: Ichthyosis lamellar syndrome is a rare genodermatosis and in most families is inherited as an autosomal recessive trait because of transglutaminase-1 deficiency.
Gholamreza Eshghi, Bita Sharafi, Hasan Faghani   +2 more
doaj  

Multiple Bony Deformities and Short Stature in a Child with Lamellar Ichthyosis, What more can we do? A Case Report. [PDF]

J Orthop Case Rep, 2021
Sinha S, Sharma A, Gupta S, Agarwal A, Kanojia RK.   +4 more
europepmc   +1 more source

A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report

Journal of International Medical Research
Autosomal recessive congenital ichthyosis is a group of skin disorders characterized by abnormal keratinization. The collodion baby phenotype is a rare phenotype of autosomal recessive congenital ichthyosis characterized by a tight, translucent membrane ...
Wang Lixiang, Li Xianghong, Yang Lexia, Xi Hongmin, Li Liangliang   +4 more
doaj   +1 more source

Triallelic Inheritance of TGM1 and ALOXE3 Mutations Associated with Severe Phenotype of Ichtyosis in an Iranian Family - A Case Report

Iranian Journal of Public Health, 2015
Lamellar ichthyosis is one form of congenital autosomal recessive ichthyosis. To date, seven causative genes for ARCI have been identified. To understand further the genetic spectrum of the disease, we analyzed a four-generation Iranian family with ARCI ...
Mohammad Taghi AKBARI, Mojgan ATAEI-KACHOUI   +1 more
doaj  

Oral manifestations of lamellar ichthyosis in association with rickets. [PDF]

BMJ Case Rep, 2020
Tewari N, Mathur VP, Tamchos R, Rahul M.
europepmc   +1 more source

Corneal ulcer secondary to ectropion in lamellar Ichthyosis: A rare congenital disorder. [PDF]

Saudi J Ophthalmol, 2020
Bhedasgaonkar SS, Nadkarni SU.
europepmc   +1 more source

A Topic Diathesis In Hereditary Ichthyosis Patients Attending A Tertiary Health Care Center In Saudi Arabia

Indian Journal of Dermatology, 2004
The occurrence of atopic diathesis in hereditary ichthyosis (HI) has not been documented in Saudi patients. The atopic manifestations in histopathologically confirmed HI patients attending the dermatology clinic of king Fahad Hospital of the University ...
Al-Akloby Omar M Al-Amro
doaj  

A case of self-healing collodion baby

Przegląd Dermatologiczny, 2021
Aleksandra Kitowska, Piotr Brzeziński, Justyna Słomka, Mieczysława Karcz, Józef Jasonek   +4 more
doaj   +1 more source

Secukinumab for lamellar ichthyosis in an adolescent: a case report. [PDF]

Transl Pediatr
Li L, Wei F.
europepmc   +1 more source

Oral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings. [PDF]

Int J Clin Pediatr Dent
D'Souza OK, Dukle SG, Naik R, de Ataide IN.   +3 more
europepmc   +1 more source