ABSTRACT
INTRODUCTION: We present a case of incontinentia pigmenti associated with lethal neurological involvement. CASE REPORT: A newborn, three day-old female child presented with an erythromatous vesicular eruption and epileptic seizures secondary to extensive necrosis of the brain tissue. She died at 13 days of age following a seizure. The genetic analysis concluded in a sporadic case of incontinentia pigmenti. DISCUSSION: Thirty-eight cases of incontinentia pigmenti, associated with severe brain damage have been reported in the literature. The neurological manifestations appear rapidly after birth in the form of epilepsy. The seizures can lead to severe psychomotor retardation and, in most cases, precede the installation of motor deficiency. The lesions observed on imaging are hypodensity of varying localization and which do not correspond to any vascularization pattern. Autopsy reveals areas of brain tissue destruction. Recent genetic data suggest two physiopathological hypotheses, which both rely on NF-Kb dysfunction. The cutaneous cells expressing muted chromosome x exhibit a reduced rate of free NF-kB and are more sensitive to the apoptotic signals. Like the cutaneous cells, the brain tissue cells expressing muted chromosome x may be eliminated when becoming apoptotic. Furthermore, NF-kB is one of the links of the transduction system of the messages received by the VEGF receptor, the endothelial growth factor. A perturbation of the transmission of this message might alter cerebral microvascularization.
Subject(s)
Brain Diseases/etiology , Epilepsy/etiology , Incontinentia Pigmenti/complications , Fatal Outcome , Female , Humans , Infant, NewbornABSTRACT
INTRODUCTION: Pseudoainhum is an affection characterized by the appearance of a constricting band around a digit or limb which may lead to spontaneous amputation. There are various etiologies which can be either congenital or resulting from a concomitant disease. We report herein an original case which occurred during lamellar ichthyosis. CASE-REPORT: We present the case of a thirty-year-old woman affected by a severe form of lamellar ichthyosis who, in a few months, developed a pseudoainhum of the third left finger. Biological results were normal. X-rays of this finger showed distal resorption of the bone. The painful evolution and the absence of any conservative treatment compelled us to propose amputation of the third phalanx. DISCUSSION: Other cases of pseudoainhum have been observed in many disease responsible for vascular or neurological abnormalities. They can also result in physical traumatisms or be associated with many dermatoses, such as hereditary palmar and plantar keratodermas. As far as we know, this lesion has never been described during lamellar ichthyosis but could result in the keratinization disorders observed in this congenital ichthyosis.
Subject(s)
Ichthyosis, Lamellar/complications , Adult , Female , Fingers , HumansABSTRACT
Subacute cutaneous lupus erythematosus (SCLE) is a marker of a unique subset of lupus erythematosus patients. A 'dust-like particles' direct immunofluorescence (DIF) staining pattern, which consists of fine granular particles of immunoglobulin(s) scattered through the epidermis and the cellular infiltrates of the dermis, was reported to be specific for SCLE. In this study, we assessed the real specificity of this staining pattern, which had not yet been evaluated. We systematically searched for the dust-like particles staining pattern among the 4374 skin biopsy specimens submitted for direct cutaneous immunofluorescence during a 7-year period (1989-96). The corresponding patient records were reviewed. Dust-like particles were observed in 66 samples originating from 60 patients. Only 53% of the patients had SCLE. The remaining patients had systemic lupus erythematosus with visceral involvement (17%), discoid lupus erythematosus (3%), mixed connective tissue disease (2%). Sjögren syndrome (2%) and other diseases. Eighty-five per cent of the patients had connective tissue disease. Seventy-seven per cent of the patients were positive for antinuclear antibodies, but only 36% were positive for anti-Ro (SSA) antibodies. This study shows that the dust-like particles staining pattern is not specific for SCLE, but is highly suggestive of connective tissue disease. The nature of the antigen responsible for the immunoglobulin deposition and the prognostic significance of this DIF pattern remain to be established.
