Skin fragility-woolly hair-palmoplantar keratoderma syndrome(WHSF)

MedGen UID:: 375148
•Concept ID:: C1843292
•: Disease or Syndrome

Synonyms:	Skin fragility woolly hair syndrome; WHSF
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	TUFT1 (1q21.3)

Monarch Initiative:	MONDO:0011882
OMIM®:	620415
Orphanet:	ORPHA293165

Definition

Woolly hair-skin fragility syndrome (WHSF) is characterized by woolly hair texture and slow hair growth, as well as superficial skin fragility which is present at birth or appears in the neonatal period and then resolves or persists only as minor palmoplantar skin peeling. The disorder appears to predominantly affect hair, and to a lesser extent skin (Jackson et al., 2023). [from OMIM]

Clinical features

From HPO

Palmoplantar hyperkeratosis

MedGen UID:: 44017
•Concept ID:: C0022596
•: Disease or Syndrome

Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot.

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Abnormality of the cardiovascular system

MedGen UID:: 116727
•Concept ID:: C0243050
•: Congenital Abnormality

Any abnormality of the cardiovascular system.

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Failure to thrive

MedGen UID:: 746019
•Concept ID:: C2315100
•: Disease or Syndrome

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

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Sparse eyebrow

MedGen UID:: 371332
•Concept ID:: C1832446
•: Finding

Decreased density/number of eyebrow hairs.

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Acantholysis

MedGen UID:: 1687
•Concept ID:: C0000887
•: Pathologic Function

The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes.

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Alopecia

MedGen UID:: 7982
•Concept ID:: C0002170
•: Finding

A noncongenital process of hair loss, which may progress to partial or complete baldness.

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Nail dystrophy

MedGen UID:: 66368
•Concept ID:: C0221260
•: Disease or Syndrome

Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.

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Fragile skin

MedGen UID:: 66826
•Concept ID:: C0241181
•: Finding

Skin that splits easily with minimal injury.

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Wooly hair

MedGen UID:: 87469
•Concept ID:: C0343073
•: Finding

The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.

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Sparse eyelashes