Presentation
[…] unique presentation has not been described earlier. [medworm.com]
Genet. 80:467-477(2007) Cited for: VARIANT ARCI11 ARG-827; Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [web.expasy.org]
Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. [creative-diagnostics.com]
Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:17273967, ECO:0000269 PubMed:18843291}. [genecards.org]
These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. [mendelian.co]
Entire Body System
-
Lymphedema
[…] demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM: 609136 ] SOX17 Q9H6I2 non-pleiotropic Vesicoureteral reflux 3 (VUR3) [MIM: 613674 ] SOX18 P35713 non-pleiotropic Hypotrichosis-lymphedema-telangiectasia [sbg.bio.ic.ac.uk]
Skin
-
Alopecia
Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005 ). [mendelian.co]
Registry Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis 607602 Genetic Test Registry Ichthyosis, Hystrix-Like, With Deafness HID Syndrome Hystrix-like Ichthyosis With Deafness HID 0 602540 Genetic Test Registry Ichthyosis, Leukocyte Vacuoles, Alopecia [ukgtn.nhs.uk]
Agim Tags: Case Report Source Type: research Ichthyosis follicularis, alopecia, and photophobia syndrome We report this rare case of IFAP with atypical presentation and it was interesting to note that alopecia in this child was confined to eyebrows; this [medworm.com]
-
Sparse Hair
hair Limitation of joint mobility Hypodontia Delayed puberty Sparse and thin eyebrow Failure to thrive Carcinoma Conductive hearing impairment Narrow mouth Osteoporosis Malar flattening Neoplasm of the skin Hypertension Nevus Sensorineural hearing impairment [mendelian.co]
Eyes
-
Corneal Opacity
opacity Pain Tremor Skin fissure Ainhum Woolly hair Clubbing Abnormal cornea morphology Hypergranulosis Visual loss Amniotic constriction ring Truncal obesity Achilles tendon contracture Oral leukoplakia Selective tooth agenesis Ectrodactyly Poikiloderma [mendelian.co]
Workup
Transient signs of ichthyosis and minor dysmorphic features guided the laboratory workup towards MSD. Since MSD is a rare disease and there is a variable clinical spe... [medworm.com]
Treatment
In this article, we review the current knowledge on ARCI, with a focus on clinical, histological, ultrastructural, genetic, molecular, and treatment-related aspects. [actasdermo.org]
They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care. [web.expasy.org]
Treatment with acitretin has been reported to clear hyperkeratotic ichthyotic lesions with little effect on visual impairment. [medworm.com]
Etiology
Irrespective of etiology, virtually all types of ichthyosis exhibit a defective epidermal barrier that constitutes the driving force for hyperkeratosis, skin scaling, and inflammation. [medworm.com]
Epidemiology
Relevant External Links for ST14 Genetic Association Database (GAD) ST14 Human Genome Epidemiology (HuGE) Navigator ST14 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ST14 No data available for Genatlas for ST14 Gene Molecular cloning [genecards.org]
Iwatsuki Tags: Clinical Research: Epidemiology of Skin Diseases Source Type: research [medworm.com]
Pathophysiology
Rizzo Tags: ORIGINAL ARTICLE Source Type: research Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment AbstractHereditary ichthyoses are due to mutations on one or both alleles of more than 30 different genes, mainly [medworm.com]
Prevention
(Source: Contact Lens and Anterior Eye) Source: Contact Lens and Anterior Eye - June 20, 2017 Category: Opthalmology Authors: Melis Palamar, Irmak Karaca, Huseyin Onay, Ilgen Ertam, Ayse Yagci Source Type: research Low ‐dose isotretinoin prevents digital [medworm.com]