[…] 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]

• Short Stature

  GAPO SYNDROME Is also known as growth retardation, alopecia, pseudoanodontia, and optic atrophy Related symptoms: Autosomal recessive inheritance Global developmental delay Short stature Growth delay Nystagmus SOURCES: OMIM MONDO More info about GAPO [mendelian.co]

• Corneal Opacity

  […] stroma Autoamputation Cutis laxa Melanoma Abnormality of the fingernails Thickened skin Inflammatory abnormality of the skin Skin ulcer Seizures Foot pain Agenesis of premolar Circumungual hyperkeratosis Fine hair Corneal opacity Pain Tremor Skin fissure [mendelian.co]

• 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

  […] eyelashes Macular degeneration Joint contracture of the hand Abnormality of retinal pigmentation Split hand Sparse scalp hair Camptodactyly Abnormality of the nervous system Finger syndactyly Abnormality of the eye Retinopathy Syndactyly Sparse or absent [mendelian.co]

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]

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]

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]

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]

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]

(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]