RESUMO
Bullous pemphigoid (BP) is an autoimmune blistering disease primarily affecting the elderly, whereas cases of juvenile BP are rare. Both types of BP are typically mediated by autoantibodies targeting the NC16A region of BP180; however, a small subset of adult patient sera react to other regions of the protein. The incidence of a similar occurrence in juvenile BP is unknown. This case of juvenile BP with a negative BP180 ELISA highlights diagnostic pitfalls that can lead to a delay in the correct diagnosis in the pediatric population.
RESUMO
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.
Assuntos
Hamartoma , Nevo , Neoplasias Cutâneas , Doenças das Glândulas Sudoríparas , Neoplasias das Glândulas Sudoríparas , Adenomas Tubulares de Glândulas Sudoríparas , Feminino , Humanos , Criança , Adenomas Tubulares de Glândulas Sudoríparas/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Hamartoma/patologia , Nevo/patologia , Glândulas Sudoríparas/patologia , Neoplasias Cutâneas/patologiaRESUMO
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 well-circumscribed 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.
Assuntos
Neoplasias Cutâneas , Humanos , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/patologia , Fusão Gênica , Fatores de Transcrição/genética , Melanócitos/patologia , Biomarcadores Tumorais , Proteínas com Motivo Tripartido/genética , Ubiquitina-Proteína Ligases/genéticaRESUMO
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.
Assuntos
Hipo-Hidrose , Adolescente , Humanos , Hipo-Hidrose/diagnóstico , MasculinoRESUMO
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.
Assuntos
Hipopigmentação , Doenças da Unha , Adolescente , Humanos , Masculino , Doenças da Unha/congênito , Doenças da Unha/diagnóstico , Doenças da Unha/etiologia , UnhasRESUMO
Protoporphyria is a subtype of porphyria characterized primarily by painful phototoxic skin reactions after light exposure at specific wavelengths. Historically, phototherapy is not contraindicated in patients with protoporphyria since there have not been any reports of phototoxic reactions. However, patients with protoporphyria are advised to avoid direct sunlight. In this case report, we describe a neonate not known to have X-linked protoporphyria who received phototherapy for 1 to 2 hours. Within hours after initiation of phototherapy, this neonate developed a life-threatening reaction consisting of rash over the distribution of phototherapy, acute liver failure with coagulopathy, diffuse hypotonia with diaphragmatic failure, and subsequent acute respiratory failure that required mechanical ventilation. As in this case, patients with protoporphyria-related acute liver failure can have signs and symptoms similar to that of an acute hepatic porphyria attack. Neither neonatal reactions to phototherapy nor liver failure temporally associated with phototherapy have been reported in patients with X-linked protoporphyria. Early recognition of this entity is crucial in light of potential life-threatening complications. Therefore, providers must react quickly when neonates have abnormal reactions to phototherapy and consider protoporphyria in the differential diagnosis.
Assuntos
Fototerapia , Humanos , Recém-Nascido , Fototerapia/efeitos adversos , Fototerapia/métodos , Masculino , Protoporfiria Eritropoética/terapia , Protoporfiria Eritropoética/diagnóstico , Doenças Genéticas Ligadas ao Cromossomo X/terapia , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico , Falência Hepática Aguda/terapia , Falência Hepática Aguda/etiologia , Falência Hepática Aguda/diagnósticoRESUMO
This report focuses on the clinical course and treatment of an infant male who had a progressively enlarging tongue mass initially thought to be an infantile hemangioma but was later found to be an infantile fibrosarcoma. Treatment included surgical excision with anticipated difficult mask ventilation with active rhino/enterovirus infection bronchiolitis and recent croup. Complete surgical excision is the mainstay of treatment, and the patient did have negative margins after complete surgical re-excision. The patient has surveillance MRI scans and remains without fibrosarcoma recurrence. This case report highlights complex pediatric airway management and the need for vigilance in healthcare when common presentations, such as infantile hemangioma, also present with a concurrent rare disease at a different anatomic location, such as infantile fibrosarcoma in this case.
RESUMO
Atypical vascular lesions (AVLs) of the breast are purple papules or nodules that have been reported in breast cancer patients following radiation treatment, typically presenting with fewer than 5 lesions at diagnosis. We report a patient with 29 lesions within previously irradiated breast tissue. Due to the large number of lesions and concern for development of angiosarcoma, the patient's case was brought before a multidisciplinary tumor board that decided she should undergo a radical mastectomy with flap reconstruction. We discuss the dermatologist's role in managing this complex and increasingly common disorder.