RESUMO
Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype called self-healing collodion baby (SHCB), which is considered as ARCI subtype in the 2010 consensus classification of congenital ichthyosis. The term self-improving collodion ichthyosis (SICI) has been proposed for these patients. SHCB/SICI was initially associated with mutations in the gene TGM1. However, some cases showing ALOX12B and ALOXE3 gene mutations have also been reported. We report two cases of SHCB/SICI showing homozygous mutations in the gene CYP4F22.
Assuntos
Sistema Enzimático do Citocromo P-450/genética , Eritrodermia Ictiosiforme Congênita/genética , Ictiose Lamelar/genética , Mutação , Análise Mutacional de DNA , Feminino , Genótipo , Homozigoto , Humanos , Ictiose Lamelar/complicações , Lactente , Recém-Nascido , Masculino , Reação em Cadeia da PolimeraseRESUMO
Severe combined immunodeficiency includes a group of diseases characterized by different inherited immunological defects. A 4-month-old girl diagnosed with Omenn syndrome, a subtype of severe combined immunodeficiency presenting with generalized erythroderma, was referred to our hospital for an allogeneic stem cell transplantation. Days before transplantation, she developed hyperpigmented macules that increased in number in the following months. As the erythroderma resolved after transplantation, diffuse hypopigmentation was simultaneously noted together with the expansion of hyperpigmented lesions. Cutaneous biopsy samples were taken at different moments, showing features of Omenn syndrome at first, and 2 months later changes consistent with hypopigmentation and repigmentation were observed. Although pigmentary disorders are rarely described in this context, these must be taken into account as a possible alternative diagnosis to graft-versus-host disease and toxicoderma in immunosuppressed patients.
Assuntos
Transtornos da Pigmentação/complicações , Transtornos da Pigmentação/patologia , Imunodeficiência Combinada Severa/complicações , Imunodeficiência Combinada Severa/patologia , Feminino , Humanos , Lactente , Pigmentação da PeleRESUMO
Acral erythema is a frequent cutaneous reaction related to chemotherapy. A patient presented herein developed acral erythema related to cytosine arabinoside treatment and then graft versus host disease (GVHD). Subsequently, worsening of palmar erythema and pain occurred with intravenous cyclosporin infusions.
Assuntos
Ciclosporina/efeitos adversos , Citarabina/uso terapêutico , Eritema/induzido quimicamente , Doença Enxerto-Hospedeiro/tratamento farmacológico , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamento farmacológico , Adulto , Antineoplásicos/uso terapêutico , Toxidermias/etiologia , Eritema/terapia , Humanos , Infusões Intravenosas , Masculino , Metotrexato/uso terapêuticoRESUMO
Cardiac myxomas are difficult to diagnose, not only because of a lack of specific systemic symptoms but also because, even in those cases presenting with embolic disease, emboli are exceptional. The skin is one of the organs most frequently involved by myxomatous emboli. We report an extraordinary case in which emboli of a cardiac myxoma was present in the skin biopsy, but "camouflaged" among the normal Vater-Pacini corpuscles of the palm of the hand, We also review the existing literature on myxomatous emboli identified in skin biopsies.