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2 OMIM references -
1 associated gene
6 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
2 OMIM references -
3 associated genes
18 signs/symptoms
Familial multiple trichoepithelioma
Autosomal dominant hypohidrotic ectodermal dysplasia

CYLD EDAR
EDARADD
TRAF6


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CYLD
(0.69)
TRAF6



Citations in the biomedical literature:


Familial multiple trichoepithelioma
CYLD
Autosomal dominant hypohidrotic ectodermal dysplasia
EDAR EDARADD TRAF6



Familial multiple trichoepithelioma
Autosomal dominant hypohidrotic ectodermal dysplasia

Synonym(s):
(no synonyms)

Synonym(s):
- AD-HED
- Autosomal dominant anhidrotic ectodermal dysplasia

Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Neoplasms -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
1 MeSH reference: C536552
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance


Familial multiple trichoepithelioma
Autosomal dominant hypohidrotic ectodermal dysplasia

Very frequent
- Follicular / erythematous / edematous papules / milium
- Skin tumors / lumps / epidermal cysts
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Telangiectasiae of the skin

Occasional
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)


Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of teeth and dentition
- Decreased body hair / axillar / pubic hairlessness
- Dry / squaly skin / exfoliation
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Premature lost of decidious teeth
- Thin skin
- Tooth shape anomaly

Frequent
- Abnormal fingernails
- Alveolysis / paraodontitis

Occasional
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Eczema
- Flattened nose
- Frontal bossing / prominent forehead
- Malignant hyperthermia
- Thick lips