ABSTRACT
This review covers congenital hair shaft anomalies, which are conditions affecting hair shaft morphology. Sometimes suspected with the naked eye, often in need of microscopic examination to properly diagnose, these conditions could lead to the discovery of a complex genetic syndrome. Further knowledge is needed in order to establish a diagnosis, approach treatment alternatives and shed light on prognoses, which benefits patients. Our aim is to provide an updated summary of pathogenesis, clinical findings, treatment options and prognosis as well as psychosocial impact.
Subject(s)
Hair Diseases , Hair , Hair Diseases/diagnosis , Humans , Microscopy , PrognosisABSTRACT
Genodermatoses are inherited syndromes with cutaneous manifestations. Some genodermatoses are associated with malignancy of internal organs and tissues. Early detection of the typical signs of these syndromes is important, because those lesions are a sign of underlying predisposition to extracutaneous neoplasms. The dermatologist has an important role in the early detection of these signs and syndromes, as early detection may affect the clinical course of the disease. We report here the characteristic cutaneous findings that dermatologists should be aware of in order to identify a genodermatosis with a possible associated malignancy. An updated overview of the pathogenesis and clinical findings of these syndromes is provided. Furthermore, surveillance protocols and treatment recommendations are explored.
Subject(s)
Neoplastic Syndromes, Hereditary , Humans , Neoplastic Syndromes, Hereditary/diagnosis , Neoplastic Syndromes, Hereditary/genetics , SkinABSTRACT
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