Results 11 to 20 of about 6,529 (236)

Resolution of Pseudoainhum with Acitretin in Lamellar Ichthyosis

Nepal Journal of Dermatology, Venereology & Leprology
Lamellar ichthyosis is an autosomal recessive type of ichthyosis characterized by abnormal skin scaling, ectropion and ear abnormalities. Pseudoainhum is the appearance of constriction bands around digits which can lead to autoamputation of digits. Here
Srisukhirthi Sukumar, Nithiyaa Pavadai, Sheela Kuruvila   +2 more
doaj   +2 more sources

Successful Treatment of Grade III Ectropion with Oral Acitretin in an Infant with Lamellar Ichthyosis: A Case Report

Indian Journal of Paediatric Dermatology
Lamellar ichthyosis, a severe form of congenital ichthyosis, is often complicated by ectropion that, if unmanaged, can result in permanent vision loss. We report a 5-month-old infant of lamellar ichthyosis with bilateral grade III ectropion treated with ...
Shreshthangsha Sayan Biswas, Rashid Shahid, Swetalina Pradhan   +2 more
doaj   +2 more sources

Bilateral Congenital Upper Eyelid Eversion in Neonates with Lamellar Ichthyosis

TNOA Journal of Ophthalmic Science and Research
Background: Bilateral congenital upper eyelid eversion is a rare but visually alarming condition that presents at birth and is often associated with systemic disorders such as lamellar ichthyosis.
Sangameshwarayya B. Salimath, Saket Rajesh Gandhi, T. M. Poonam   +2 more
doaj   +2 more sources

Successful Treatment of an Adult with Atopic Dermatitis and Lamellar Ichthyosis Using Dupilumab

Biologics: Targets & Therapy, 2022
Faisal K Binkhonain, Sara Aldokhayel, Hessah BinJadeed, Abdulaziz Madani Dermatology Department, College of Medicine, King Saud University, Riyadh, Saudi ArabiaCorrespondence: Abdulaziz Madani, Dermatology Department, King Saud University, Riyadh, 7805 ...
Binkhonain FK, Aldokhayel S, BinJadeed H, Madani A   +3 more
doaj   +2 more sources

Compound Heterozygous Mutations in TGM1 Causing a Severe Form of Lamellar Ichthyosis: A Case Report

Pharmacogenomics and Personalized Medicine, 2022
Jing Zeng, Baihui Shan, Lu Guo, Sha Lv, Fuqiu Li Department of Dermatology, the Second Hospital of Jilin University, Changchun, People’s Republic of ChinaCorrespondence: Fuqiu Li, Department of Dermatology, the Second Hospital of Jilin University, No ...
Zeng J, Shan B, Guo L, Lv S, Li F
doaj   +2 more sources

Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review. [PDF]

Clin Case Rep
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal disorder often mistaken for collodion baby. We report a 37‐week neonate with severe ectropion, eclabium, and thick fissured scales who died on Day 2 despite optimal care. This case highlights the diagnostic challenges, intensive management needs, and poor prognosis of Harlequin ...
Alanzi A, Alatefi D, Alkabazi M, Alsaleh B, Fouad A, Al Oraby I.   +5 more
europepmc   +2 more sources

A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings. [PDF]

Clin Case Rep
ABSTRACT Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low‐ and middle‐income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care.
Zaeem M, Hassan AHMU, Javaid MH, Usman M, Ahmed M, Naveed MU, Al Aboud MY.   +6 more
europepmc   +2 more sources

ALOXE3 missense variant in a Chihuahua with autosomal recessive ichthyosis. [PDF]

Anim Genet
Abstract Ichthyoses are a heterogenous group of inherited disorders that are characterized by excessive scale formation on the skin. We investigated a Chihuahua with severe scaling since age 12 weeks. The scaling was generalized and involved the entire body and legs. The paw pads were mildly hyperkeratotic.
Vinberg C, Rietmann SJ, Soto S, Jagannathan V, Åhman S, Leeb T.   +5 more
europepmc   +2 more sources

Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis [PDF]

Clin Case Rep
ABSTRACT Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies.
Soltani N, Bayati Z, Soosanabadi M, Zamani A, Lotfi A, Gholami M.   +5 more
europepmc   +2 more sources

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

Int J Clin Pediatr Dent
Aim and background Lamellar ichthyosis (LI) is a rare type of ichthyosis characterized by accumulation of hyperkeratotic scales on skin surfaces. Literature on the involvement of oral structures is limited.
D'Souza OK, Dukle SG, Naik R, de Ataide IN.   +3 more
europepmc   +2 more sources