Results 51 to 60 of about 363,235 (161)

Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother

SAGE Open Medical Case Reports
We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness.
Rachel L Aubry, A. Micheil Innes, Richard M Haber   +2 more
doaj   +1 more source

Sjögren-Larsson syndrome: A study of clinical symptoms in six children

Indian Dermatology Online Journal, 2014
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation.
Sahana M Srinivas, KN Vykunta Raju, Ravi Hiremagalore   +2 more
doaj   +1 more source

Early Acitretin Therapy in a Patient With Harlequin Ichthyosis

JEADV Clinical Practice, Volume 5, Issue 3, Page 959-962, September 2026.
ABSTRACT Harlequin ichthyosis (HI) is a rare, severe congenital disorder of keratinization caused by pathogenic variants in the ABCA12 gene resulting in thick, hyperkeratotic plates, deep fissures, and characteristic facial and limb abnormalities.
Orasa Sukmark, Parith Wongkittichote, Sanchawan Wittayakornrerk   +2 more
wiley   +1 more source

Congenital heart disease in harlequin ichthyosis: Case series

Journal of Family Medicine and Primary Care, 2019
Harlequin ichthyosis (HI) is the most severe form of congenital ichthyosis and inherited in an autosomal recessive manner. The disease is marked by severe thickened and scaly skin on the entire body.
Bhupendra Verma, Abhishek Abhinay, Anand Mohan, Amrita Singh   +3 more
doaj   +1 more source

Harlequin ichthyosis newborn: A case report

SAGE Open Medical Case Reports, 2022
Harlequin ichthyosis is a rare and severe genetic skin disorder that occurs within the developing foetus. Harlequin ichthyosis is the most severe and devastating form of autosomal recessive congenital ichthyoses.
Maryam Nikbina, Masoumeh Sayahi
doaj   +1 more source

Harlequin Ichthyosis: a rare congenital dermatological disorder [PDF]

, 2017
Harlequin Ichthyosis is the most severe form of congenital Ichthyosis presenting at birth. It is a very rare disorder with autosomal recessive inheritance. Perinatal mortality is high and the survivors develop severe erythroderma subsequently.
Mehrotra, Manju, Bhattacharyya, Tapan K., Bhardwaj, Abhishek, Sharma, Charu   +3 more
core   +1 more source

A rare case of ocular pterygium in a young boy with congenital lamellar ichthyosis

Indian Journal of Ophthalmology. Case Reports
Congenital lamellar ichthyosis is a rare dermato-ocular disease occurring in 1:300,000 population and is autosomal recessive. The most common ocular manifestation reported is cicatricial ectropion.
Shubratha S Hegde, Sandhya Dharwadkar, K Athira, Harsha Shaji   +3 more
doaj   +1 more source

Harlequin fetus: A case report

Indian Journal of Pathology and Microbiology, 2022
Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal recessive fashion. The importance of antenatal diagnosis by ultrasonography, DNA-based
Mangesh Machindra Londhe, Tushar Vitthalrao Patil, Kishor Hiraman Suryawanshi   +2 more
doaj   +1 more source

Multiple Carboxylase Deficiency in an Infant Presenting With Severe Metabolic Acidosis and Sepsis‐Like Features: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Multiple carboxylase deficiency (MCD) is a rare, treatable inborn error of biotin metabolism that may present in children in the first year of life with life‐threatening metabolic crises. We report a 4‐month‐old child presenting with persistent seizures, eczematous rash near the orifices, unjustified loss of hair with baldness, and severe ...
Touqeer Rehman, Riyan Saeed, Muhammad Ahmed Akif Rauf, Luqman Asif, Muhammad Junaid, Muddassir Khalid, Rao Nouman Ali, Umair Ali, Fred Segawa   +8 more
wiley   +1 more source

Abnormal Transglutaminase 1 Expression Pattern in a Subset of Patients with Erythrodermic Autosomal Recessive Ichthyosis [PDF]

, 1998
An autosomal recessive ichthyosis characterized by collodian membrane at birth followed by generalized skin redness and fine, light-colored scales has been termed nonbullous congenital ichthyosiform erythroderma (CIE).
Choate, Keith A., Williams, Mary L., Khavari, Paul A.   +2 more
core   +1 more source