Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
6p24.3
Skin fragility-woolly hair syndrome is a rare autosomal recessive genodermatosis characterized by skin fragility with blistering, focal and diffuse palmoplantar keratoderma, woolly hair with varying degrees of alopecia, hyperkeratotic plaques on the trunk and limbs, and dystrophic nails.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 607655.1.1 | Saudi Arabia | Female | Yes | Yes | Fragile skin ; Skin erosion ; Abnormal... Fragile skin ; Skin erosion ; Abnormal blistering of the skin ; Woolly scalp hair ; Palmoplantar keratoderma  | NM_004415.3:c.7097G>A | Homozygous | Autosomal, Recessive | Al-Owain et al. 2011 | Index patient |
| 607655.1.2 | Saudi Arabia | Male | Yes | Yes | Fragile skin ; Skin erosion ; Abnorm... Fragile skin ; Skin erosion ; Abnormal blistering of the skin ; Woolly scalp hair ; Palmoplantar keratoderma | NM_004415.3:c.7097G>A | Homozygous | Autosomal, Recessive | Al-Owain et al. 2011 | Brother of 607655.1.... |
| 607655.1.3 | Saudi Arabia | Male | Yes | Yes | Fragile skin ; Skin erosion ; Abnormal... Fragile skin ; Skin erosion ; Abnormal blistering of the skin ; Woolly scalp hair ; Palmoplantar keratoderma | NM_004415.3:c.7097G>A | Homozygous | Autosomal, Recessive | Al-Owain et al. 2011 | Brother of 607655.1.... |
| 607655.1.6 | Saudi Arabia | Female | Yes | Yes | Fragile skin ; Skin erosion ; Abnormal... Fragile skin ; Skin erosion ; Abnormal blistering of the skin ; Woolly scalp hair ; Palmoplantar keratoderma | NM_004415.3:c.7097G>A | Homozygous | Autosomal, Recessive | Al-Owain et al. 2011 | Cousin of 607655.1.1 |
| 607655.1.7 | Saudi Arabia | Male | Yes | Yes | Fragile skin ; Skin erosion ; Abnormal... Fragile skin ; Skin erosion ; Abnormal blistering of the skin ; Woolly scalp hair ; Palmoplantar keratoderma | NM_004415.3:c.7097G>A | Homozygous | Autosomal, Recessive | Al-Owain et al. 2011 | Cousin of 607655.1.1 |