ABSTRACT
Epidermolysis bullosa (DEB) pruriginosa is a type of dystrophic DEB wherein there is a mutation in gene COL VII A1, which encodes anchoring fibril protein Type VII collagen. Clinically, it is characterized by intensely pruritic linear lichenified or nodular prurigo like lesions over extremities with milia, nail dystrophy, and in some cases albopapuloid lesions over trunk. Here we report a case of an adult onset DEB pruriginosa with typical clinical features which was confirmed by histopathology. In any severely itchy skin lesion over pretibial region, DEB pruriginosa should be kept in mind, and DEB pruriginosa can occur for the first time in adulthood also.
Subject(s)
Epidermolysis Bullosa Dystrophica/diagnosis , Epidermolysis Bullosa Dystrophica/drug therapy , Epidermolysis Bullosa Dystrophica/epidemiology , Epidermolysis Bullosa Dystrophica/therapy , Female , Humans , Middle Aged , Nail Diseases/epidemiology , Nails, Malformed/epidemiologyABSTRACT
As lesões melanocíticas adquiridas podem apresentar aspecto clínico não-usual em pacientes portadores de epidermólise bolhosa hereditária. Essas lesões são conhecidas como "nevos EB" e, muitas vezes, constituem um desafio diagnóstico ao dermatologista por apresentarem características clínicas, dermatoscópicas e histopatológicas semelhantes às encontradas no melanoma. Não são exclusivas de nenhuma forma de epidermólise bolhosa e têm sua frequência aumentada na infância. Relata-se o caso de um doente do sexo masculino, de 6 meses de idade, portador da forma distrófica recessiva da doença, com lesão pigmentada de rápido crescimento na coxa esquerda. Optou-se por seguimento clínico da lesão, considerando que os aspectos clínicos, dermatoscópicos e histológicos eram compatíveis com a descrição de outros casos de nevo EB previamente descritos.
Acquired melanocytic lesions may present unusual clinical features in all forms of hereditary epidermolysis bullosa. These lesions are known as "EB nevi", and often pose a diagnostic challenge for dermatologists given their resemblance - clinically, dermoscopically and histologically - to melanoma. The lesions have been reported in all types of hereditary EB, most of them in childhood. We report the case of a 6-month-old boy suffering from recessive dystrophic epidermolysis bullosa (RDEB) that presented as a large pigmented lesion on his left thigh. We decided to monitor the lesion closely since we considered that the clinical and pathological aspects of the lesion were compatible with the description of other previously reported cases of EB nevi.
Subject(s)
Humans , Infant , Male , Epidermolysis Bullosa Dystrophica/diagnosis , Nevus/diagnosis , Skin Neoplasms/diagnosis , Epidermolysis Bullosa Dystrophica/pathology , Follow-Up Studies , Nevus/pathology , Skin Neoplasms/pathologyABSTRACT
We report a female newborn with a dystrophic epidermolysis bullosa. The diagnosis was made by electron microscopy of a bullous skin lesion. The importance of reaching a specific diagnosis is underscored. Close relatives can therefore be informed and educated about prognosis, etiology and the possibility of having new affected offspring. An accurate diagnosis can be reached through electronic microscopy or modern immunohistochemical techniques. Further complementary information given by conventional histology is required. A complete study is recommended to minimize errors in the intepretation of morphology (Rev MÚd Chile 2004; 132: 614-8).
Subject(s)
Humans , Female , Infant, Newborn , Epidermolysis Bullosa Dystrophica/diagnosis , Epidermolysis Bullosa Dystrophica/etiology , Epidermolysis Bullosa Dystrophica/drug therapy , Skin DiseasesABSTRACT
La epidermólisis bulosa distrófica (EBD) es una patología cutánea, que frecuentemente se asocia a la presencia de cánceres epidermoides cutáneos de conducta agresiva. El tratamiento quirúrgico constituye la principal modalidad de tratamiento, debido a la presencia de metástasis en forma temprana, debe consolidarse con quimioterapia o radioterapia. El uso de estas modalidades se dificulta, debido a la patología cutánea de base. Se presenta el manejo con inmunoterapia utilizando una mezcla de citocinas naturales (IRX-2), en un paciente de 27 años con cáncer epidermoide de lengua recurrente, metastásico a cuello, en quien, por sus condiciones generales, no fue posible administrar otras modalidades terapéuticas. El uso de inmunoterapia indujo una respuesta objetiva parcial y paliación sintomática sin toxicidad. El uso de este tratamiento pudiera ser considerado como manejo paliativo en pacientes con cáncer epidermoide (CE) asociado a EBD.
Subject(s)
Humans , Male , Adult , Epidermolysis Bullosa Dystrophica/diagnosis , Epidermolysis Bullosa Dystrophica/therapy , Immunotherapy , Tongue Neoplasms , Cyclophosphamide , CytokinesSubject(s)
Humans , Male , Infant, Newborn , Epidermolysis Bullosa Dystrophica/diagnosis , Clinical Evolution , Leg , Wound HealingABSTRACT
O autor descreve as alterações radiológicas da epidermólise bolhosa distrófica em sua forma recessiva em dois pacientes irmãos, do sexo masculino. Os achados radiológicos mais importantes são estenose do esôfago, amputação das falanges das mãos e pés e a presença de fecaloma.
Subject(s)
Child, Preschool , Child , Male , Humans , Epidermolysis Bullosa Dystrophica/complications , Epidermolysis Bullosa Dystrophica/diagnosis , Esophageal Stenosis/etiology , Fecal Impaction , Esophageal Stenosis/diagnosisABSTRACT
Se reporta el caso de una paciente de 40 días de nacida con un epidermólisis bulosa distrófica recesiva generalizada (Sindrome de Hallopeau-Siemens).