RESUMO
Apert syndrome is a rare genetic disorder characterized by malformations of the skull, face, hands, and feet. We report a case of severe hyperhidrosis in a 13-month-old female infant with Apert syndrome who was born with craniosynostosis, midface hypoplasia, and syndactyly of both hands. She had a history of excessive sweating since birth and this was confirmed using the iodine-starch test. Hyperhidrosis was first reported as a key cutaneous manifestation of Apert syndrome in 1993. However, the main focus in the field of dermatology is on antibiotic-refractory acne, which serves as another cutaneous hallmark of the disease. This is the first report in the Korean literature that describes hyperhidrosis in Apert syndrome. We highlight the presentation of hyperhidrosis as a key cutaneous manifestation in Apert syndrome.
Assuntos
Feminino , Humanos , Lactente , Acne Vulgar , Acrocefalossindactilia , Craniossinostoses , Dermatologia , Pé , Mãos , Hiperidrose , Parto , Crânio , Suor , Sudorese , SindactiliaRESUMO
Pagetoid Bowen disease is a histological variant of Bowen disease which demonstrates large pale staining cells (pagetoid cells). It requires differential diagnosis from other cutaneous malignancies with similar patterns, such as extramammary Paget's disease (EMPD) and Pagetoid melanoma in situ. Herein, we report a case of Pagetoid Bowen disease which was initially misdiagnosed as ectopic EMPD.
Assuntos
Doença de Bowen , Diagnóstico Diferencial , Imuno-Histoquímica , Melanoma , Doença de Paget ExtramamáriaRESUMO
Eccrine poroma is a benign solitary tumor with acrosyringeal differentiation that usually occurs on the sole or either side of the foot. Rapid growth of eccrine poroma during pregnancy has rarely been reported. We demonstrate a unique case of a 37-year-old pregnant woman who suffered from enlarged eccrine poroma on her left palm, which was tiny for 10 years but suddenly grew to a size of bean-sized reddish brown colored, pedunculated mass during pregnancy. The patient denied a previous history of trauma or infection to the lesion. Histopathologic findings with a shave biopsy were consistent with eccrine poroma. After the tumor was completely removed by the shave biopsy, no recurrence was noted for 5 months.
Assuntos
Adulto , Feminino , Humanos , Gravidez , Biópsia , Glândulas Écrinas , Pé , Poroma , Gestantes , RecidivaRESUMO
Morgellons disease is a rare disease with unknown etiology. Herein, we report the first case of Morgellons disease in Korea. A 30-year-old woman presented with a 2-month history of pruritic erythematous patches and erosions on the arms, hands, and chin. She insisted that she had fiber-like materials under her skin, which she had observed through a magnifying device. We performed skin biopsy, and observed a fiber extruding from the dermal side of the specimen. Histopathological examination showed only mild lymphocytic infiltration, and failed to reveal evidence of any microorganism. The polymerase chain reaction for Borrelia burgdorferi was negative in her serum.
Assuntos
Adulto , Feminino , Humanos , Braço , Povo Asiático , Biópsia , Borrelia burgdorferi , Queixo , Mãos , Coreia (Geográfico) , Doença de Morgellons , Fibras Nervosas Mielinizadas , Reação em Cadeia da Polimerase , Doenças Raras , PeleRESUMO
Calcinosis is rarely observed in juvenile-onset amyopathic dermatomyositis in contrast to juvenile-onset dermatomyositis. A 6-year-old female presented with several 0.5 to 2 cm-sized painless grouped masses on both knees for 3 years. The patient also presented with multiple erythematous scaly patches and plaques on both elbows, knuckles, buttock, ankles and cheeks. Her mother had similar skin lesions which were erythematous scaly patches on the knuckles and elbows, since her childhood. When skin biopsy was performed from a left knee nodule, liquid chalky discharge was observed. The biopsy results were consistent with calcinosis cutis. Other biopsies from erythematous patch of the patient and erythematous patch of her mother showed vacuolization of basal cell layer with inflammatory cell infiltrations. Laboratory findings showed normal range of serum phosphorus (4.5 mg/dl), calcium (9.3 mg/dl), 1,25-dihydroxy-vitamin D (10.8 ng/ml) and parathyroid hormone levels (11 pg/ml). Both patient and her mother had no history of muscle weakness and showed normal levels of muscle-specific enzyme. Both patients were diagnosed with juvenile-onset amyopathic dermatomyositis based on histopathology and cutaneous manifestations with no evidence of muscle weakness and no serum muscle enzyme abnormalities. Tumoral calcium deposits observed in daughter was diagnosed as dystrophic calcinosis which can be rarely seen in juvenile-onset amyopathic dermatomyositis. The patient is being treated with oral acetazolamide (40 mg/kg/d) for calcinosis.