Diagnosis of<unk>  begins with review of a patient's medical history, laboratory results, and clinical examination of symptoms. Biopsy and histopathological examination can be used to test for the presence of hyperkeratosis, parakeratosis, follicular plugging, and basal cell melanization, all indicators of<unk> . Furthermore, abnormalities in skin pigmentation patterns as well as the presence of palmoplantar keratoderma with yellow tinting of the skin can indicate a possible case of<unk> . Despite the presence of outward indicators, routine blood testing will not yield abnormal results. While the aforementioned symptoms of<unk>  are outwardly identifiable,<unk>  is a rare genetic disease that requires genetic analysis to yield a confirmed diagnosis. The Genetic Testing Registry lists 15 clinical genetic tests used in obtaining a diagnosis of this disorder. Two of these tests utilize Targeted Variant Analysis, thirteen utilize sequence analysis of the entire coding region, and seven utilize deletion and duplication analysis. The type of test ordered may depend on the clinician's judgement or access to specific testing methods.
Dermatopathia pigmentosa reticularis
Follicular atrophoderma
Phytophotodermatitis
Striate keratoderma
Keratoderma
Poikiloderma vasculare atrophicans
Vitiligo ponctué
Urticaria pigmentosa