Classification ILDS: Q84.520 ICD-10: Q84.5<unk>  consists of five sub-types, each named after its corresponding genetic mutation and each associated with distinguishing clinical features: #<unk> -K6a is caused by a mutation in the KRT6A gene and more often associated with oral leukokeratosis and poor feeding in infants. #<unk> -K6b is caused by a mutation in the KRT6B gene and more commonly associated with an increased age of onset (>14 years). #<unk> -K6c is caused by a mutation in the KRT6C gene and is the least common sub-type. It is not often associated with the additional features of oral leukokeratosis, cysts, follicular hyperkeratosis, and natal teeth. #<unk> -K16 is caused by a mutation in the KRT16 gene and is more commonly associated with severe plantar pain. #<unk> -K17 is caused by a mutation in the KRT17 gene and more commonly associated with the presence of cysts, follicular kyperkeratosis, and natal teeth. Before the genetic basis of<unk>  was identified and described, the disease was historically divided into the following sub-types: *<unk>  type I (also known as "Jadassohn–Lewandowsky syndrome") is an autosomal dominant keratoderma that principally involves the plantar surfaces, but also with nails changes that may be evident at birth, but more commonly develop within the first few months of life. *<unk>  type II (also known as "Jackson–Lawler<unk> " and "Jackson–Sertoli syndrome") is an autosomal dominant keratoderma presenting with a limited focal plantar keratoderma that may be very minor, with nails changes that may be evident at birth, but more commonly develop within the first few months of life. Clinical Diagnosis In order to clinically diagnose<unk> , the clinical triad of toenail thickening, plantar keratoderma, and plantar pain must be present. This triad is present in 97% of individuals with<unk>  by the age of 10 years old.<unk>  can be suspected in patients who do not have the complete clinical triad but who exhibit other symptoms such as cysts, oral leukokeratosis, follicular hyperkeratosis, palmoplantar hyperhidrosis, or natal teeth. Since<unk>  is inherited in an autosomal dominant fashion in 70% of individuals, it should especially be suspected in patients with symptoms who also have a parent with similar symptoms. Histopathological analysis of skin or nail tissue is not helpful in diagnosis of<unk> , but can be used to rule out some related diseases. If there is a clinical suspicion for<unk> , genetic testing can confirm the diagnosis. Genetic Diagnosis The diagnosis of<unk>  can be confirmed by the identification of a mutation in one of the five genes responsible for the condition: KRT6A, KRT6B, KRT6C, KRT16, KRT17.<unk>  Project is a non-profit dedicated to finding a cure for<unk> . The organization houses a genetic registry (the International<unk>  Research Registry) and offers free genetic testing for individuals suspected to have<unk> .
Pachyonychia congenita
Platonychia
Lipoatrophia annularis
Linitis plastica
Hapalonychia
Steatopygia
Koilonychia
Trachonychia