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Corneodermatosseous syndrome is an autosomal dominant condition with onset in infancy, characterized by corneal dystrophy, photophobia, diffuse palmoplantar keratoderma, distal onycholysis, skeletal abnormalities, with brachydactyly, short stature, and medullary narrowing of digits. [2]
Ichthyosis bullosa of Siemens is an autosomal dominant genetic condition caused by a mutation in the gene for keratin 2e on chromosome 12. [4] [7] [8] [9]: 563 This means an affected person has a 50% chance of passing the condition on to their child.
This is a shortened version of the twelfth chapter of the ICD-9: Diseases of the Skin and Subcutaneous Tissue. It covers ICD codes 680 to 709. The full chapter can be found on pages 379 to 393 of Volume 1, which contains all (sub)categories of the ICD-9. Volume 2 is an alphabetical index of Volume 1.
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome (KLICK syndrome) is a rare cutaneous condition characterized by ichthyosis and keratoderma. [ 1 ] [ 2 ] It is an autosomal recessive disorder associated with a deletion in the transcription gene POMP , which codes proteasome maturation protein.
Porokeratosis may be divided into the following clinical types: [1]: 532 Plaque-type porokeratosis (also known as "Classic porokeratosis" and "Porokeratosis of Mibelli" [2]) is characterized by skin lesions that start as small, brownish papules that slowly enlarge to form irregular, annular, hyperkeratotic or verrucous plaques.
Punctate palmoplantar keratoderma. Keratosis punctata palmaris et plantaris; Spiny keratoderma; Focal acral hyperkeratosis; Complex keratodermas Diffuse palmoplantar keratoderma. Erythrokeratodermia variabilis; Palmoplantar keratoderma of Sybert; Olmsted syndrome; Naegeli–Franceschetti–Jadassohn syndrome; Focal palmoplantar keratoderma
[6]: 562 [10] Multiple minute digitate hyperkeratosis , a rare cutaneous condition, with about half of cases being familial Focal acral hyperkeratosis (also known as "Acrokeratoelastoidosis lichenoides,") is a late-onset keratoderma , inherited as an autosomal dominant condition, characterized by oval or polygonal crateriform papules developing ...
Epidermolytic ichthyosis (EI), [a] is a severe form of dry scaly skin, that initially presents with redness, blisters, erosions, and peeling in a newborn baby. [5] [6] Hyperkeratosis typically develops several months later. [6]