The clinical spectrum of anti-Ro-positive cutaneous neonatal lupus erythematosus.

BACKGROUND: Cutaneous neonatal lupus erythematosus (NLE) is an uncommon disease described mainly through isolated case reports. OBJECTIVE: Our purpose was to examine the cutaneous spectrum, clinical associations, and course of disease in babies with anti-Ro-positive NLE. METHODS: This is a retrospective case series evaluation of newborns with anti-Ro-positive NLE seen at a single ambulatory care university center over a 20-year period. Cases were drawn from a population of 3.2 million. Follow-up was at least 3 years. RESULTS: Four boys and 14 girls were included in our evaluation. Distribution of skin lesions in 18 babies was as follows: face, 17; periorbital "owl-eye" or "eye mask" facial rash, 14; scalp, 15; arms and legs, 13; trunk and groin, 6. Crusted lesions were predominant in 3. Photosensitivity was seen in 12, and features of cutis marmorata telangiectasia congenita were observed in 4. In 17 neonatal lupus was not suspected until the dermatology consultation. Noncutaneous manifestations included thrombocytopenia in 4, cholestatic hepatitis in 3, and congenital heart block in 3. Four patients had residual telangiectasia that persisted for 3 or more years but eventually cleared in 2 patients. Three babies had dyspigmentation that spontaneously cleared within 22 months. None had atrophy or scarring. CONCLUSION: Periorbital, scalp, and extremity lesions are common in cutaneous NLE. Crusted lesions predominated in male infants. In children selected by cutaneous involvement, thrombocytopenia and hepatic disease were present as frequently as cardiac disease and occurred more frequently in male babies with crusted skin lesions. Children with cutaneous NLE should be evaluated for hematologic and hepatic as well as cardiac involvement.

Incontinentia pigmenti: variable disease expression within an affected family.

We report a florid case of incontinentia pigmenti in a neonate in which linear vesiculobullous, verrucous and pigmented lesions were present simultaneously at birth. Histology of a vesiculobullous lesion showed vesiculation with numerous eosinophils in the epidermis, and a sparse infiltrate in the dermis with pigmentary incontinence. The mother of our patient described a streaky linear rash on her legs during her own childhood which resolved spontaneously, in addition to partial anodontia, suggesting that she too has the disease, although previously undiagnosed. This emphasises the variable disease expression and the importance of recognising this condition so that patients can be followed up with regard to complications, and genetic counselling can be offered. The issue of prenatal diagnosis is discussed.

Congenital anomalies and vascular birthmarks of the lower extremities.

MR imaging is an invaluable tool for the evaluation of congenital abnormalities and vascular birthmarks of the extremities in children. These abnormalities of the immature musculoskeletal system are often underestimated by radiography. MR imaging is useful for diagnosis, assisting in therapy, showing response to treatment, and determining prognosis. Localized and generalized abnormalities of the lower extremities and issues pertinent to their MR imaging are illustrated in this article.

Poroqueratosis zoniforme en una gemela / Zoniform porokeratosis in one twins

Se comunica un caso de poroqueratosis zoniforme en cara posterior del miembro inferior izquierdo, presente desde el nacimiento en una sola gemela de 14 años. Se la supone provocada por una mutación somática en el ectodermo embrionario(AU)

Poroqueratosis zoniforme en una gemela / Zoniform porokeratosis in one twins

Se comunica un caso de poroqueratosis zoniforme en cara posterior del miembro inferior izquierdo, presente desde el nacimiento en una sola gemela de 14 años. Se la supone provocada por una mutación somática en el ectodermo embrionario

Congenital fascial dystrophy: stiff skin syndrome--a human counterpart of the tight-skin mouse.

Four patients are described with stony-hard induration of the skin and deeper tissues, most pronounced on the buttocks, thighs, and legs, and with limitation of joint mobility and contractures of the lower limbs. Two patients were siblings and one was the product of a consanguineous marriage. The disorder appears to be genetically determined, but the mode of inheritance has not been established. The disease was noticed in the patients' early infancy and was not progressive. Except for functional impairment of the lungs caused by an underdeveloped thorax that resulted from pressure of the thickened thoracic fascia, there was no involvement of the viscera or muscles and no immunologic abnormalities. The most important finding was markedly thickened fascia. This hereditary connective tissue disorder has all the characteristics of the tight-skin mouse.

Idiopathic erythermalgia: a congenital disorder.

Idiopathic erythermalgia during early childhood and adolescence is characterized by red, congested, burning pain of the lower extremities provoked by exercise or exposure to warmth. The clinical symptoms of idiopathic erythermalgia in a young woman and her mother are described. Histopathologic and immunofluorescence findings in biopsy specimens of affected areas of skin were consistent with a nonspecific inflammatory process. The condition was completely refractory to any treatment. Even the long-lasting relief of pain with one low dose of aspirin, which is a prerequisite for the diagnosis of thrombocytemic erythromelalgia, was lacking. Idiopathic erythermalgia appears to be a separate clinical entity and congenital disorder.