RESUMO
Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis associated with deposition of periodic acid-Shiff (PAS)-positive hyaline material in skin, mucosa, and other tissues. LP is caused by loss-of-function mutations in the extracellular matrix protein 1 gene (ECM1). No curative therapy is available. In this report, we describe the clinicopathological and genetic features of a Turkish LP family with four cases, and evaluate the response of acitretin therapy. Patients were presented with hoarseness and beaded eyelid papules, thickened frenulum, hyperkeratotic plaques and infiltrated warty papules and nodules. Skin biopsies revealed deposition of PAS-positive hyaline material in dermis. A homozygous nonsense mutation in exon 3 of the ECM1 gene, R53X, was detected in the family. Acitretin therapy was administered in two patients, in whom some regression and softening of skin lesions were achieved. However, no histopathological change in PAS-positive deposition could be detected. Although there is no current effective treatment for LP, acitretin may be helpful for patients, especially those who complain about hyperkeratosis.
Assuntos
Acitretina/uso terapêutico , Ceratolíticos/uso terapêutico , Proteinose Lipoide de Urbach e Wiethe/tratamento farmacológico , Adulto , Humanos , Proteinose Lipoide de Urbach e Wiethe/genética , Proteinose Lipoide de Urbach e Wiethe/patologia , Masculino , Pele/patologiaRESUMO
Kawasaki disease is an acute febrile mucocutaneous lymph node syndrome and a multisystem vasculitis affecting children under five years of age. The induction of chronic plaque psoriasis following Kawasaki disease can be mediated by common pathomechanisms. A recently suggested pathomechanism is based upon superantigens, which may trigger both diseases in patients with suspected genetic predispositions. Herein, a case who developed psoriasis after Kawasaki disease is presented together with the related literature.
Assuntos
Síndrome de Linfonodos Mucocutâneos/complicações , Psoríase/etiologia , Feminino , Predisposição Genética para Doença , Humanos , Lactente , Psoríase/genética , Psoríase/patologiaRESUMO
Leiomyosarcoma and epidermodysplasia verruciformis are rarely encountered in children. The association of either leiomyosarcoma or epidermodysplasia verruciformis with immune deficiency has previously been documented. A 6-year-old girl, who has had multifocal leiomyosarcomatosis after the previous diagnoses of epidermodysplasia verruciformis and immune defect, represents an interesting association of these features.
Assuntos
Epidermodisplasia Verruciforme/complicações , Síndromes de Imunodeficiência/complicações , Leiomiossarcoma/complicações , Neoplasias Retroperitoneais/complicações , Anticorpos Anti-Idiotípicos/sangue , Anticorpos Anti-Idiotípicos/imunologia , Biópsia por Agulha , Criança , Diagnóstico Diferencial , Epidermodisplasia Verruciforme/diagnóstico , Epidermodisplasia Verruciforme/imunologia , Feminino , Humanos , Síndromes de Imunodeficiência/diagnóstico , Síndromes de Imunodeficiência/imunologia , Laparotomia/métodos , Leiomiossarcoma/diagnóstico , Leiomiossarcoma/cirurgia , Neoplasias Retroperitoneais/diagnóstico , Neoplasias Retroperitoneais/cirurgia , Tomografia Computadorizada por Raios XRESUMO
Generalized pustular psoriasis (GPP) is a rare type of psoriasis and is considered the most severe variant. Infantile pustular psoriasis (IPP) is a very rare form of GPP. Severe IPP may be difficult to control and is complicated by bacterial superinfection, dehydration, and sepsis. Herein, a 2.5-month-old infant with IPP is presented, who was successfully treated with systemic retinoid therapy, which appears to be a safe and effective option for this challenging pustular eruption of childhood.
