Melanoma arising in a patient with ataxia‐telangiectasia: A call for full skin examinations in this patient population

Abstract

Ataxia‐telangiectasia (A‐T) is an autosomal recessive, multisystem disorder characterized by cerebellar ataxia and oculocutaneous telangiectasias that present in early childhood. Increased incidence of malignancy is also associated with A‐T. Hematopoietic malignancies occur most commonly, with a majority being lymphoid cancers; however, there is a risk for other malignancies, such as breast, gastric, and other solid tumors. Herein, we report the case of a 28‐year‐old woman with A‐T with melanoma.

Skin Conditions and Movement Disorders: Hiding in Plain Sight

“…79 In addition, approximately 24.7% of AT cases develop malignancies over their lifetime, mostly hematological, and although the incidence of melanoma has not been characterized well, previous reports emphasize the importance of performing periodic longitudinal complete skin examinations with a focus on changing nevi in AT population. 80 In addition, progeroid changes and movement disorders may be a prominent feature of biallelic POLR3A variants, related to the Wiedemann-Rautenstrauch syndrome, a rare neonatal progeroid syndrome with growth and developmental retardation, lipoatrophy, a distinctive face, sparse scalp hair, prominent scalp veins, and dental anomalies. Ataxia, tremor and dystonia may be a common manifestation in these individuals.…”

“…Cutaneous granulomatosis presenting as skin nodules and ulcerated erythematous plaques disseminated on the face, and on trauma‐prone areas of upper and lower extremities was described as well 79 . In addition, approximately 24.7% of AT cases develop malignancies over their lifetime, mostly hematological, and although the incidence of melanoma has not been characterized well, previous reports emphasize the importance of performing periodic longitudinal complete skin examinations with a focus on changing nevi in AT population 80 …”