Cutaneous melanocytic tumor with CRTC1::TRIM11 fusion (CMCT) is a recently described entity with only 13 cases reported in the literature. Histopathologically, the neoplasm consists of atypical epithelioid to spindled cells that form a wellcircumscribed nodule usually confined to the dermis and subcutis with cytological features including large vesicular nuclei with prominent nucleoli and abundant eosinophilic cytoplasm. Immunohistochemistry shows variable expressivity of melanocytic markers. Currently, there are limited data regarding long-term outcomes of this newly described entity. Most cases have done well, but there is one case reported with an adverse event. Hence, further studies are needed to accurately classify this tumor. Definitive diagnosis is made by laboratory evidence of CMCT.Herein, we report the first case of CMCT with epidermal involvement in the youngest patient known to be affected to date.
Key Clinical MessageWe report a case of Noonan syndrome with loose anagen hair (NS/LAH), a rare variant of Noonan syndrome, with associated trichorrhexis nodosa and trichoptilosis. The SHOC2 mutation may be responsible for these additional hair shaft defects, revealing the importance of microscopic examination of hairs in these patients.
Acquired idiopathic generalized anhidrosis (AIGA) is a rare disorder characterized by insidious or sudden onset of the inability to sweat involving >25% of body surface area in the absence of other neurologic or sweat gland abnormalities and typically affects young, healthy, Asian men. Here, we describe two Caucasian teenagers with the diagnosis. They both had variable responses to prednisone, one in the setting of an elevated ANA, suggesting an autoimmune or inflammatory pathomechanism of the disorder. It is essential the clinician recognizes this rare entity and initiates timely intervention to prevent the serious consequences of hyperpyrexia.
Syringocystadenoma papilliferum (SCAP), tubular apocrine adenoma (TAA), and eccrine nevus are rare benign sweat gland tumors with varied clinical presentations but generally distinctive histomorphologic profiles. TAA and SCAP have been associated with other cutaneous hamartomas, most commonly with nevus sebaceus. Additionally, TAA and SCAP have uncommonly co‐occurred in the same lesion. In contrast to nevus sebaceus, eccrine nevus is considerably less common and is rarely associated with other benign adnexal lesions. Here we present an unusual case of a complex sweat gland hamartoma containing features of syringocystadenoma papilliferum, tubular apocrine adenoma, and eccrine nevus in a 7‐year‐old female.
Whitening of the nail, or leukonychia, can have a wide range of etiologies including genetic disorders, trauma, poisoning, autoimmune disorders, and infections. Here we detail a case of idiopathic acquired leukonychia totalis in a 17-year-old boy. This condition has been reported 13 times in the literature previously, with only young boys being affected. Proper diagnosis may help minimize unnecessary investigations and prevent additional psychological stress over whether an underlying disease is present.
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