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Ectodermal dysplasia 15, hypohidrotic/hair type(ECTD15)

MedGen UID:: 1680605
•Concept ID:: C5193145
•: Disease or Syndrome

Synonyms:	ECTD15; ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE

Gene (location): Gene(s) directly associated with this condition or phenotype.	CST6 (11q13.1)

Monarch Initiative:	MONDO:0032804
OMIM®:	618535

Definition

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Ectodermal dysplasia-15 (ECTD15) is characterized by hypotrichosis that develops in early childhood and absence of sweating except with extreme exercise. Skin is dry from birth and eczematous lesions may develop in adulthood. Other features include blepharitis and photophobia (van den Bogaard et al., 2019). [from OMIM]

Clinical features

From HPO

Palmoplantar keratoderma

MedGen UID:: 1635750
•Concept ID:: C4551675
•: Disease or Syndrome

Abnormal thickening of the skin of the palms of the hands and the soles of the feet.

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Photophobia

MedGen UID:: 43220
•Concept ID:: C0085636
•: Sign or Symptom

Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.

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Blepharitis

MedGen UID:: 598
•Concept ID:: C0005741
•: Disease or Syndrome

Inflammation of the eyelids.

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Eczematoid dermatitis

MedGen UID:: 3968
•Concept ID:: C0013595
•: Disease or Syndrome

Eczema is a form of dermatitis that is characterized by scaly, pruritic, erythematous lesions located on flexural surfaces.

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Sparse scalp hair

MedGen UID:: 346499
•Concept ID:: C1857042
•: Finding

Decreased number of hairs per unit area of skin of the scalp.

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Hypohidrosis

MedGen UID:: 43796
•Concept ID:: C0020620
•: Disease or Syndrome

Abnormally diminished capacity to sweat.

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Pruritus

MedGen UID:: 19534
•Concept ID:: C0033774
•: Sign or Symptom

Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.

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Dry skin

MedGen UID:: 56250
•Concept ID:: C0151908
•: Sign or Symptom

Skin characterized by the lack of natural or normal moisture.

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Slow-growing hair

MedGen UID:: 371309
•Concept ID:: C1832348
•: Finding

Hair whose growth is slower than normal.

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Sparse eyelashes

MedGen UID:: 375151
•Concept ID:: C1843300
•: Finding

Decreased density/number of eyelashes.

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Sparse body hair

MedGen UID:: 350775
•Concept ID:: C1862863
•: Finding

Sparseness of the body hair.

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Sparse hair

MedGen UID:: 1790211
•Concept ID:: C5551005
•: Finding

Reduced density of hairs.

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Abnormality of head or neck
- Sparse scalp hair
Abnormality of limbs
- Palmoplantar keratoderma
Abnormality of the immune system
- Blepharitis
- Eczematoid dermatitis
Abnormality of the integument
Abnormality of the nervous system
- Photophobia

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
- CROGVEctodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
- CROGVEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
- CROGVEctodermal dysplasia 15, hypohidrotic/hair type

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Ectodermal dysplasia
      - Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
        Ectodermal dysplasia 15, hypohidrotic/hair type

Recent clinical studies

Etiology

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.

Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042

See all (1)

Diagnosis

Clinical and Molecular Genetic Analysis of Cases with Ectodermal Dysplasia.

Yapijakis C, Douka A, Gintoni I, Agiannitopoulos K, Vlachakis D, Chrousos GP
Adv Exp Med Biol 2023;1423:181-186. doi: 10.1007/978-3-031-31978-5_15. PMID: 37525042

See all (1)

MedGen

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Ectodermal dysplasia 15, hypohidrotic/hair type(ECTD15)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Supplemental Content

Table of contents

Clinical resources

Molecular resources

Consumer resources

Reviews

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