RESUMO
Acrodermatitis dysmetabolica (AD) is a rare, newly termed, and poorly understood disease that appears to be clinically similar to acrodermatitis enteropathica (AE). Both diseases are characterized by the triad of periorificial and acral dermatitis, diarrhoea, and alopecia. Unlike AE, which is caused by zinc deficiency, AD is caused by numerous metabolic disorders. One such disorder is maple syrup urine disease (MSUD), a genetic deficiency of branched chain α-ketoacid dehydrogenase, the enzyme that degrades the branched-chain amino acids (BCAAs) isoleucine, leucine and valine. Treatment involves restricting BCAAs to prevent accumulation. We report a case of an infant being treated for MSUD, who developed the triad of AE/AD after a period of poor BCAA formula intake. The child was found to have low isoleucine and normal zinc levels. Increasing the isoleucine dose improved the eruption, thus the diagnosis of AD secondary to isoleucine deficiency was made. This case emphasizes the importance of carefully balancing BCAA levels while treating MSUD, as deficiency can precipitate AD.
Assuntos
Acrodermatite/diagnóstico , Isoleucina/deficiência , Doença da Urina de Xarope de Bordo/diagnóstico , Zinco/deficiência , Acrodermatite/etiologia , Acrodermatite/patologia , Acrodermatite/terapia , Alopecia/diagnóstico , Alopecia/patologia , Aminoácidos de Cadeia Ramificada/metabolismo , Diagnóstico Diferencial , Diarreia/diagnóstico , Humanos , Lactente , Masculino , Doença da Urina de Xarope de Bordo/genética , Doença da Urina de Xarope de Bordo/patologia , Doença da Urina de Xarope de Bordo/terapiaRESUMO
Harlequin ichthyosis (HI) is a rare and severe form of congenital ichthyosis. Linked to deletion and truncation mutations of a keratinocyte lipid transporter, HI is characterized by diffuse epidermal hyperkeratinization and defective desquamation. At birth, the HI phenotype is striking with thick hyperkeratotic plate-like scales with deep dermal fissures, severe ectropion and eclabium, among other findings. Over the first months of life, the hyperkeratotic covering is shed, revealing a diffusely erythematous, scaly epidermis, which persists for the remainder of the patient's life. Although HI infants have historically succumbed in the perinatal period related to their profound epidermal compromise, the prognosis of HI infants has vastly improved over the past 20 years. Here, we report a case of HI treated with acitretin, focusing on the multi-faceted management of the disease in the inpatient setting. A review of the literature of the management of HI during the perinatal period is also presented.
Assuntos
Acitretina/uso terapêutico , Ictiose Lamelar/tratamento farmacológico , Ceratolíticos/uso terapêutico , Pré-Escolar , Terapia Combinada , Ectrópio/congênito , Humanos , Lactente , Recém-Nascido , Modalidades de Fisioterapia , Encaminhamento e ConsultaRESUMO
Aplasia Cutis Congenita (ACC) is a rare condition characterized by the absence of a portion of skin at birth. Skin defects are usually small (0.5 to 3 cm) and located on the scalp. Although there can be other physical or genetic abnormalities, ACC is most often a benign isolated condition. Rarely is an underlying bony defect present, and this association increases the rate of complications. We report a case of a newborn male with ACC of the entire crown and vertex scalp, non-ossified parietal skull and dysplastic corpus callosum. The patient's skull and skin defects were treated non-surgically, and he recovered well.
Assuntos
Agenesia do Corpo Caloso , Displasia Ectodérmica/complicações , Crânio/anormalidades , Anti-Infecciosos Locais/uso terapêutico , Corpo Caloso/fisiologia , Displasia Ectodérmica/tratamento farmacológico , Humanos , Recém-Nascido , Masculino , Osteogênese , Sulfadiazina de Prata/uso terapêutico , Crânio/fisiologiaAssuntos
Acrospiroma/patologia , Recidiva Local de Neoplasia/patologia , Neoplasias das Glândulas Sudoríparas/patologia , Acrospiroma/diagnóstico , Acrospiroma/cirurgia , Adolescente , Biópsia por Agulha , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Recidiva Local de Neoplasia/diagnóstico , Recidiva Local de Neoplasia/cirurgia , Neoplasias das Glândulas Sudoríparas/diagnóstico , Neoplasias das Glândulas Sudoríparas/cirurgiaRESUMO
Eccrine angiomatous hamartoma (EAH) is a rare, benign cutaneous lesion histologically defined as a proliferation of eccrine glands within a closely associated vascular stroma. Typically EAH presents as a solitary flesh-colored, hyperhidrotic, painful papule or plaque appearing at birth or during childhood. Only two previously reported cases have been described involving multiple, symmetrically located lesions. The occurrence of knuckle pads in patients with EAH has not been reported. We present an instance of multiple painful EAH lesions occurring symmetrically on the extensor wrists in a 14-year-old girl with knuckle pads.
Assuntos
Glândulas Écrinas/patologia , Hamartoma/patologia , Doenças das Glândulas Sudoríparas/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Pele/patologia , PunhoAssuntos
Displasia Ectodérmica/complicações , Epidermólise Bolhosa/complicações , Antro Pilórico/anormalidades , Consanguinidade , Displasia Ectodérmica/genética , Displasia Ectodérmica/patologia , Epidermólise Bolhosa/genética , Epidermólise Bolhosa/patologia , Evolução Fatal , Humanos , Recém-Nascido , Masculino , Mutação/genéticaRESUMO
Many childhood diseases have cutaneous manifestations such as exanthems. More than 50 agents (viral, bacterial, or rickettsial) that cause exanthems in children have been identified. This article describes a systematic approach for evaluating 12 common exanthems. Diagnosis is made by correlating the location, morphology, and timing of the eruption with associated constitutional signs and symptoms.