Results 1 to 10 of about 4,932 (173)

Congenital ichthyosis presentation and outcome - A case series [PDF]

Journal of Family Medicine and Primary Care, 2023
The ichthyosis, also called disorders of keratinization or cornification, are heterogeneous group of disorders characterized by a generalized scaling of the skin of varying severity.
Qudsiya A. Ansari, Vinaya A. Singh, Kailas G. Randad, Prasoon Bansal   +3 more
doaj   +2 more sources

Congenital ichthyosis in a Maltese dog: A case report [PDF]

Veterinární Medicína, 2021
This case report describes congenital ichthyosis in a Maltese dog, a condition, which has not previously been reported in this breed. The dog presented with several dry, tightly adhering scales showing a multi-focal appearance.
Kim TS, Seo JA, Oh TH, Park JK, Jeong KS, Hong IH   +5 more
doaj   +2 more sources

Developmental cataract in congenital ichthyosis. [PDF]

BMJ Case Rep, 2023
A teenage boy who was previously diagnosed to have congenital ichthyosis presented to the eye clinic with complaints of gradually decreasing vision in both eyes since childhood. The best-corrected distance visual acuity was 20/125 in the right eye and 20/40 in the left eye. Clinical examination revealed developmental cataracts in both eyes.
Dandekar P, Chaurasia S.
europepmc   +3 more sources

Case Report: Dental treatment under general anesthesia and dental management of a child with congenital ichthyosis [PDF]

Frontiers in Dental Medicine
Congenital ichthyosis is a disease in which the stratum corneum on the surface of the skin becomes thick from the time of the fetus and the barrier function of the skin is impaired.
Ryoko Hino, Yuta Chiba, Yuriko Maruya, Manami Tadano, Shinji Otake, Seira Hoshikawa, Yoji Sasahara, Kan Saito   +7 more
doaj   +2 more sources

Maximal use of 0.05% topical isotretinoin in patients with congenital ichthyosis results in low systemic exposure. [PDF]

Br J Clin Pharmacol
Abstract Congenital ichthyoses (CI) are rare, inherited skin disorders characterized by hyperkeratosis, scaling and fissuring that significantly impair patients' quality of life. Treatment options are limited, with systemic retinoids reserved for severe cases owing to their adverse effect profile.
Schneider H, Bunick CG, Hillmann K, Huynh TN, Kempers S, Peschel N, Blume-Peytavi U, Teng JMC, Mendelsohn AM, Stinson J, Lee LW.   +10 more
europepmc   +2 more sources

Bullying in Children With Congenital Ichthyosis. [PDF]

Pediatr Dermatol
ABSTRACTBackground/ObjectivesBullying of children with chronic disorders is associated with an increased risk of depression, anxiety, poor self‐esteem, and suicidal ideation. Congenital ichthyoses are genodermatoses with extensive visible scaling and inflammation.
Rustad AM, Soltani H, Yang LJ, McKenney JE, Ren Z, Rangel SM, Paller AS.   +6 more
europepmc   +3 more sources

A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris. [PDF]

Clin Case Rep, 2023
Key Clinical MessageCoexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management. Further exploration of associated problems, including hearing loss and developmental delay, is warranted in ...
Shearer Z, White G, Steed JZ, Brown C, Venable T, Baber M.   +5 more
europepmc   +4 more sources

DSP missense variant in a Scottish Highland calf with congenital ichthyosis, alopecia, acantholysis of the tongue and corneal defects [PDF]

BMC Veterinary Research, 2022
Background Ichthyosis describes a localized or generalized hereditary cornification disorder caused by an impaired terminal keratinocyte differentiation resulting in excessive stratum corneum with the formation of more or less adherent scales. Ichthyosis
Irene M. Häfliger, Caroline T. Koch, Astrid Michel, Silvia Rüfenacht, Mireille Meylan, Monika M. Welle, Cord Drögemüller   +6 more
doaj   +2 more sources

Clinico-Epidemiologic Profile of Non-Syndromic Congenital Ichthyosis – A Retrospective Chart Review of 107 Patients

Indian Journal of Dermatology
Background: Congenital ichthyoses are a rare Mendelian group of disorders affecting the integument with a heterogeneous clinical presentation amongst which scaling is a constant feature.
Rahul Mahajan, Shirin Bakshi, Debajyoti Chatterjee, Dipankar De, Uma N. Saikia, Sanjeev Handa   +5 more
doaj   +2 more sources

Autosomal Recessive Congenital Ichthyosis

Actas Dermo-sifiliográficas, 2013
The term autosomal recessive congenital ichthyosis (ARCI) refers to a group of rare disorders of keratinization classified as nonsyndromic forms of ichthyosis. This group was traditionally divided into lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE) but today it also includes harlequin ichthyosis, self-healing collodion baby ...
Laura Rodriguez-Pazos, Manuel Ginarte, Ana Vega   +2 more
exaly   +3 more sources