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10th July 2023
Inherited Skin Disease
There are a multitude of genetic conditions that have associated skin manifestations (see table).
| Condition | Description |
|---|---|
| Ataxia Telangiectasia | Autosomal recessive
Mucocutaneous telangiectasia Increased risk of lymphoma and leukaemia |
| Cowden Syndrome | Trichilemmomas
Warty hyperplasia of mucosal surfaces Associated with breast and thyroid carcinoma |
| Darier disease | Autosomal dominant
Scaly crusted papules in a seborrhoeic distribution ATP2A2 |
| Gardner syndrome | Epidermal cysts, lipomas, and fibromas
Associated with colonic carcinoma |
| Gorlin syndrome | Basal cell naevus syndrome
Multiple basal cell carcinomas Associated with brain tumours and ovarian cancer |
| Hereditary haemorrhagic telangiectasia | Autosomal dominant
20% spontaneous Diagnostic criteria include telangiectasias, visceral bleeding, epistaxis, AV malformations, and first-degree relative involvement. |
| Howel-Evans syndrome | Tylosis
Associated with oesophageal carcinoma |
| LEOPARD syndrome | L – lentigines (multiple brown-black spots on the skin)
E – electrocardiographic (ECG) conduction defects O – ocular hypertelorism P – pulmonary stenosis A – abnormalities of genitals R – retarded growth resulting in short stature D – deafness or hearing loss due to inner ear malfunction |
| Mild inherited ichthyosis | Autosomal dominant
Incomplete penetrance |
| Neurofibromatosis | 6 or more café-au-lait macules
Axillary freckling Neurofibromas Associated with malignant schwannomas and astrocytoma |
| Peutz-Jeghers syndrome | Mucocutaneous pigmentation (especially in the perioral region)
Associated with gastrointestinal malignancy |
| Sturge-Weber syndrome | Port wine stain
Associated with vascular meningeal malformation and epilepsy |
| Tuberous sclerosis | Angiofibromas
Periungual fibromas Shagreen patches Ash leaf macules Associated with sarcomas and rhabdomyomas |
| Von hippel Lindau syndrome | Café-au-lait macules
Haemangiomas Associated with vascular tumours, phaeochromocytomas, renal and pancreatic carcinoma |
| Wiskott-Aldrich syndrome | X-linked inheritance
Eczema Immunodeficiency Increased risk of lymphoma and leukaemia |
Table 6: Inherited conditions with dermatological manifestations.
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