RESUMO
Epidermolysis bullosa pruriginosa is a rare variant of dystrophic epidermolysis bullosa characterized by severely pruritic and cicatricial lesions localized to the extensor extremities. We report a Singaporean Chinese male with epidermolysis bullosa pruriginosa with an underlying novel mutation in the COL7A1 gene. A heterozygous acceptor splice site mutation IVS67‑1G>T probably led to in‑frame skipping of exon 68 (36‑basepairs), resulting in a loss of 12 amino acids. Among his three children, only the youngest son, who had bilateral big toenail thickening, possessed the same mutation. His skin biopsy one decade ago revealed association of focal amyloidosis; a recent skin biopsy showed more established features of lichen amyloidosis. It is debatable whether the cutaneous amyloidosis was a secondary or primary phenomenon. Our report highlights that the diagnosis of epidermolysis bullosa pruriginosa may be obscured when cutaneous amyloidosis is coexistent.
Assuntos
Adulto , Povo Asiático/genética , Amiloidose Familiar/epidemiologia , Epidermólise Bolhosa/complicações , Epidermólise Bolhosa/diagnóstico , Epidermólise Bolhosa/epidemiologia , Epidermólise Bolhosa/genética , Humanos , Perna (Membro)/patologia , Erupções Liquenoides/epidemiologia , Masculino , Pessoa de Meia-Idade , MutaçãoRESUMO
Rheumatoid arthritis is a common inflammatory disease affecting about 1% of the population. Interstitial lung disease is a serious and frequent complication of rheumatoid arthritis. Rheumatoid arthritis associated interstitial lung disease (RA-ILD) is characterized by several histopathologic subtypes. This article reviews the proposed pathogenesis and risk factors for RA-ILD. We also outline the important steps involved in the work-up of RA-ILD and review the evidence for treatment and prognosis.
La artritis reumatoide es una enfermedad inflamatoria común, que afecta cerca del 1% de la población. La enfermedad pulmonar intersticial es una complicación frecuente y seria de la artritis reumatoide y esta asociación está caracterizada por diferentes subtipos histológicos. Este artículo analiza la patogénesis y los factores de riesgo de esta asociación. Además señala los esfuerzos realizados y las evidencias para el diagnóstico y tratamiento.
Assuntos
Humanos , Artrite Reumatoide/complicações , Doenças Pulmonares Intersticiais/etiologia , Artrite Reumatoide/diagnóstico , Artrite Reumatoide/tratamento farmacológico , Doenças Pulmonares Intersticiais/diagnóstico , Doenças Pulmonares Intersticiais/tratamento farmacológico , Prognóstico , Fatores de RiscoRESUMO
Many previously uncharacterized cases of poor growth in children, i.e. idiopathic short stature, are now attributable to genetic defects in the GH-IGF-1 axis. This paper will provide an overview of the clinical findings of patients identified with various genetic defects of the GH/IGF-1 axis with an emphasis on the more recently described syndromes.