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.