Medical condition |
Clinical
presentation |
Alopecia Areata9,10
|
An autoimmune disorder that affects the hair follicles, leading to
hair loss. It typically affects the hair-bearing areas of the body and
presents with discrete bald patches on the scalp.
|
Aplasia Cutis Congenita11
|
Rare congenital skin disorder leading to a focal or extensive absence
of the epidermis, dermis, and occasionally subcutaneous tissue.
It is a serious, life-threatening condition.
|
Focal Dermal Hypoplasia Syndrome (Goltz
syndrome)12,13
|
A genetically inherited disorder that can affect the development
of many different organ systems (such as skin, gastrointestinal tract,
eyes, musculoskeletal system, cardiac tissues, and central nervous
system).
|
Incotinentia Pigmenti (Bloch-Sulzberger
syndrome)14,15
|
An inherited disorder (a rare X-linked dominant genodermatosis) of
skin pigmentation that is also associated with abnormalities of the
teeth, skeletal system, eyes, and central nervous system.
It is one of a group of gene-linked diseases known as neurocutaneous
disorders.
The brain, central nervous system, and cerebral cortex are frequently
involved.
|
Pachyonychia Congenita16,17
|
It is a group of rare, inherited disorders of keratinization.
Characterized by hypertrophic nail dystrophy, painful palmoplantar
keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts
(including steatocystoma and vellus hair cysts), palmoplantar
hyperhidrosis, and follicular keratoses on the trunk and extremities.
|