RESUMO
We report the clinical and molecular findings in a patient with a mild form of recessive dystrophic epidermolysis bullosa and aortic insufficiency. To our knowledge, this is the first report of association between dystrophic epidermolysis bullosa and abnormalities of the aortic valve. Analysis of the COL7A1 gene has revealed two new mutations, a 20-bp duplication and a splice site mutation.
Assuntos
Insuficiência da Valva Aórtica/genética , Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/genética , Adulto , Epidermólise Bolhosa Distrófica/patologia , Genes Recessivos/genética , Genótipo , Humanos , Masculino , Mutação/genética , Linhagem , FenótipoRESUMO
Kwashiorkor, a form of severe protein-energy malnutrition that entails loss of lean body weight, occurs endemically among children in many parts of the world but also has been documented in adults. We report a case of kwashiorkor in an HIV-positive adult male. Cutaneous findings are striking, and skin, hair, and nails are affected. Although kwashiorkor occurs in patients with HIV-AIDS, the skin manifestations have not been emphasized in the dermatologic literature. Indeed, dermatologists may play a vital role in diagnosing this treatable condition.
Assuntos
Síndrome da Imunodeficiência Adquirida/complicações , Kwashiorkor/complicações , Dermatopatias/complicações , Adulto , Humanos , Kwashiorkor/diagnóstico , Kwashiorkor/patologia , Masculino , Pele/patologia , Dermatopatias/diagnóstico , Dermatopatias/patologiaRESUMO
BACKGROUND: Commonly used treatments for pyoderma gangrenosum are medical, with immunosuppressive agents employed most often. OBJECTIVE: To report a case and discuss the indications for radical surgical treatment of pyoderma gangrenosum. METHODS: Analysis of a case of Crohn's disease-associated pyoderma gangrenosum treated with immunosuppression followed by amputation, and a review of the literature on surgical management of pyoderma gangrenosum. RESULTS: In unstable patients with intractable multiple medical problems, surgical treatment of pyoderma gangrenosum may be indicated by the existence of these life-threatening comorbidities. The recent literature suggests that surgical management of pyoderma gangrenosum may also be appropriate in other special circumstances. CONCLUSIONS: Surgical management, including amputation, may have a role in the management of pyoderma gangrenosum. Further research is needed to delineate precisely the circumstances and patient factors that are appropriate indications for such surgery.
Assuntos
Pioderma Gangrenoso/cirurgia , Idoso , Amputação Cirúrgica , Biópsia por Agulha , Doença Crônica , Terapia Combinada , Quimioterapia Combinada , Emergências , Evolução Fatal , Feminino , Humanos , Perna (Membro)/microbiologia , Perna (Membro)/patologia , Perna (Membro)/cirurgia , Necrose , Pioderma Gangrenoso/diagnóstico , Pioderma Gangrenoso/microbiologiaRESUMO
Cutaneous depressions, commonly known as dimples, are uncommon in locations other than the face. An infant had deep dimple-like depressions near the acromion bilaterally. This most likely represents benign autosomal acromial dimples, a rarely reported autosomal dominant condition. Other causes of dimples include a variety of congenital malformation syndromes, and infectious, metabolic, and traumatic etiologies. Awareness of the etiology and significance of skin dimples is helpful to the clinician when confronted with this unusual finding.