The affected members present with sparse and woolly hair, severe nail dystrophy and reticulate skin pigmentation. [paperity.org]

Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [howlingpixel.com]

Pathogenic sequence variant identified here is present in heterozygous conditions in both healthy siblings and a mother. This mutation is a pathogenic, and not present outside the family because we screened 102 ethnically match control individuals. [bmcmedgenet.biomedcentral.com]

Most patients in the present study were males and presented HED, which usually is the most severe type as to the occurrence of dental abnormalities. [ijdr.in]

We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene. [moh-it.pure.elsevier.com]

• Alopecia

  ECTD4 is characterized by complete alopecia, hypotricosis and nail dystrophy in all digits. There is no evidence of any other abnormality. Inheritance can be autosomal dominant or recessive. [uniprot.org]

  'pure' hair-nail type Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Abnormality of the teeth Absent eyebrow Abnormality of the integument Abnormality of the sweat gland Absent eyebrow Absent eyelashes Alopecia [familydiagnosis.com]

  Patients show complete alopecia and primitive nails. Autosomal recessive type has previously been associated with mutations in either KRT85, KRT74 or HOXC13. [genome.jp]

  Name Ectodermal Dysplasia 4, Hair/Nail Type Synonyms ECTODERMAL DYSPLASIA, 'PURE' HAIR/NAIL TYPE Classification developmental, genetic, skin Phenotypes Absent eyebrow ; Absent eyelashes ; Alopecia ; Autosomal dominant inheritance ; Autosomal recessive [mousephenotype.org]

• Brittle Hair

  […] eyebrow Absent eyelashes Alopecia Brittle hair Congenital onychodystrophy Hair-nail ectodermal ... ... [familydiagnosis.com]

  hair, Intellectual impairment, Decreased fertility, Short stature) (Amish brittle hair syndrome) (Trichothiodystrophy) 234050 Bjornstad syndrome Pili torti and nerve deafness 262000 Cantu syndrome 114620 Cerebellar ataxia and ectodermal dysplasia 212835 [keratin.com]

  Affected members had sparse, brittle hair and diffuse follicular papules on the scalp. The scalp hair shaft showed varying degrees of thickness. [gepedia.com]

  […] inheritance ; Brittle hair ; Congenital onychodystrophy ; Hair-nail ectodermal dysplasia ; Nail dystrophy ; Onycholysis ; Pili torti ; Sparse body hair ; Temporal hypotrichosis Associated Genes KRT85 (Withdrawn symbols: Hb-5, KRTHB5 ) Mouse Orthologs [mousephenotype.org]

  hypotrichosis and brittle hair. [jle.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

The proper sequencing of treatment is important to achieve the desired function and esthetic results. [ijdr.in]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Early prosthetic treatment of patients with ectodermal dysplasia: a clinical report. J Prosthet Dent 2005 May;93(5):419–24. [ CrossRef ] [ Pubmed ] Priolo M. [ijcasereportsandimages.com]

Prognosis The prognosis for most patients with ectodermal dysplasia is very good. Morbidity and mortality is related to the absence or dysfunction of eccrine and mucous glands. [emedicine.medscape.com]

Classification of these conditions often presents many nosological challenges, since underlying etiologies and pathogenetics are often not known. [howlingpixel.com]

Genetic studies regarding the etiology of EDA revealed that mutations in the ectodysplasin-A and ectodysplasin-A receptor genes are responsible for X-linked and autosomal hypohidrotic ectodermal dysplasia [5]. [ijcasereportsandimages.com]

Although some ectodermal dysplasia syndromes have no known genetic etiology, the number of ectodermal dysplasia syndromes with an identifiable genetic basis is increasing. [emedicine.medscape.com]

Abstract quote Focal palmoplantar and gingival keratosis is a rare autosomal dominant disease whose clinical features, and in particular, pathologic alterations and molecular etiology remain to be well defined. [thedoctorsdoctor.com]

Spinocerebellar ataxia type 12 Synonym(s): - HNED - Hair-nail ectodermal dysplasia - PHNED Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

Relevant External Links for HOXC13 Genetic Association Database (GAD) HOXC13 Human Genome Epidemiology (HuGE) Navigator HOXC13 Atlas of Genetics and Cytogenetics in Oncology and Haematology: HOXC13 No data available for Genatlas for HOXC13 Gene Loss-of-function [genecards.org]

A Clinical, Genetic and Epidemiological Study. Baltimore: Johns Hopkins Press.Google Scholar Goodman, R.M., Gorlin, R.J. 1970. The Face in Genetic Disorders. Saint Louis: The C.V. Mosby Co. Google Scholar Gorlin, R.J., Pindborg, J.J. 1964. [cambridge.org]

The entry for each disease includes its epidemiology, laboratory findings, genetics, pathogenesis, cutaneous and extracutaneous findings, differential diagnosis, disease course, complications, and follow-up and therapy, where appropriate. [routledge.com]

OUTLINE EPIDEMIOLOGY CHARACTERIZATION SYNONYMS Anhidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Christ-Siemens-Touraine syndrome INCIDENCE/ PREVALENCE Rare AGE Congenital SEX X-linked, usually males Autosomal dominant-both DISEASE ASSOCIATIONS [thedoctorsdoctor.com]

EDs associated with reticulated pigmentation phenotype are rare entities for which the genetic basis and pathophysiology are not well characterized. [paperity.org]

IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Italy Michela Brena, MD,Post-Graduate School of Dermatology and Venereology, University of Milan, Italy Carlo Gelmetti, MD,chairman of the Pediatric Dermatology Unit, Department of Pathophysiology [routledge.com]

Various classifications have been proposed based on clinical features, mode of inheritance, gene mutations and pathophysiology, but pure EDA manifests with defects in ectodermal structures alone. [ijcasereportsandimages.com]

Pathophysiology Ectodermal dysplasia results from the abnormal morphogenesis of cutaneous and/or oral embryonal ectoderm (ie, hair, nails, teeth, eccrine glands). In some forms, mesodermal abnormalities are also present. [emedicine.medscape.com]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]

Statements regarding dietary supplements have not been evaluated by the FDA and are not intended to diagnose, treat, cure, or prevent any disease or health condition. [amazon.com]

Your skin Holds body fluids in, preventing dehydration Keeps harmful microbes out, preventing infections Helps you feel things like heat, cold, and pain Keeps your body temperature even Makes vitamin D when the sun shines on it Anything that irritates [icdlist.com]

Artificial tears to prevent damage to the cornea may benefit patients with reduced lacrimation along with saline sprays to protect nasal mucosa. [ijcasereportsandimages.com]