Skin Diseases
The skin is our largest organ in the body and often times the signs and symptoms found on the skin can be hallmark signs of a rare disease. Small, non-blanching red bumps may not be noticeable to anyone but you; however, they could be the first clue to a genetic disease found among many family members.
Café au lait spots, or light to dark brown spots on the skin are usually the earliest signs of neurofibromatosis.
- Aarskog disease - See Aarskog syndrome
- Aarskog syndrome
- Aarskog-Scott syndrome - See Aarskog syndrome
- AAS - See Aarskog syndrome
- Acute intermittent porphyria
- Alkaptonuria
- Alpha-Galactosidase A deficiency - See Fabry disease
- Anderson-Fabry disease - See Fabry disease
- Angiokeratoma corporis diffusum - See Fabry disease
- Bannayan-Riley-Ruvalcaba syndrome
- Biotinidase deficiency
- Bloom syndrome
- Bourneville disease - See Tuberous sclerosis
- Cartilage-hair hypoplasia
- Cerebrotendinous xanthomatosis
- Cowden syndrome
- CTX - See Cerebrotendinous xanthomatosis
- Ehlers-Danlos syndrome, Kyphoscoliotic type (type VI)
- Ehlers-Danlos syndrome, Vascular type (type IV)
- Epidermolysis bullosa
- Fabry - See Fabry disease
- Fabry disease
- Familial adenomatous polyposis
- GLA deficiency - See Fabry disease
- Hutchinson-gilford progeria syndrome
- Hutchinson-Gilford syndrome - See Hutchinson-gilford progeria syndrome
- Incontinentia pigmenti
- Male Turner syndrome - See Noonan syndrome
- MPS III - See Mucopolysaccharidosis Type III
- Mucopolysaccharidosis Type III
- Muir-Torre syndrome
- multiple hamartoma syndrome - See Cowden syndrome
- Noonan syndrome
- Peutz-Jeghers syndrome
- progeria - See Hutchinson-gilford progeria syndrome
- Sanfilippo syndrome - See Mucopolysaccharidosis Type III
- Scott Aarskog syndrome - See Aarskog syndrome
- Tuberous sclerosis
- Turner-like syndrome - See Noonan syndrome
- Tyrosinemia Type II
- Ullrich-Noonan syndrome - See Noonan syndrome
- Vitiligo-associated multiple autoimmune disease susceptibility 1
