Showing papers on "Incontinentia pigmenti published in 2005"
TL;DR: It is found that, while the frequency of the first three cutaneous stages of IP was comparable with previous studies, none of the secondary cases manifested any serious neurological complications but all displayed stage IV pale anhidrotic reticulate lines on their posterior calves.
Abstract: A retrospective case series of 53 female patients with incontinentia pigmenti (IP) including 28 secondary cases (female relatives of probands) was reviewed and compared with other series in an attempt to estimate more accurately the true disease burden of patients with IP. We found that, while the frequency of the first three cutaneous stages of IP was comparable with previous studies, none of the secondary cases manifested any serious neurological complications but all displayed stage IV pale anhidrotic reticulate lines on their posterior calves. This important clinical feature of IP in secondary cases has previously been under-represented in studies that often involved only paediatric probands. Hence, mildly affected cases of IP are often undiagnosed and under-represented in case series to date, possibly leading to inappropriately high estimates of neurological and eye involvement. With the availability of genetic testing, it is now feasible to confirm the variability of the phenotype and the risk of complications in IP.
59 citations
TL;DR: This is the first time that selection against the mutated X-chromosome in X-linked disease has been documented in vivo and suggests that in the absence of known mutation the X-inactivation studies used in genetic counselling can induce mistakes with some female patients.
Abstract: Incontinentia pigmenti is an X-linked genodermatosis, lethal in males. Affected females survive because of X-chromosome dizygosity and negative selection of cells carrying the mutant X-chromosome, and for this reason the skewed X inactivation pattern is often used to confirm the diagnosis. The most frequent mutation is a deletion of part of the NEMO gene (NEMOΔ4–10), although other mutations have been reported. Mutations of NEMO which do not abolish NF-κB activity totally permit male survival, causing an allelic variant of IP called hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID). We present a non-classical IP female patient who also suffered transient immunodeficiency because of a late and progressive selection against peripheral blood cells carrying an active mutated X-chromosome. This finding suggests that in the absence of known mutation the X-inactivation studies used in genetic counselling can induce mistakes with some female patients. At the age of 3 years and 6 months, all immunodeficiency signs disappeared, and the X-chromosome inactivation pattern was completely skewed. The low T cell proliferation and CD40L expression corroborate the important role of NEMO/ NF-κB pathway in T cell homeostasis. The decreased NEMO protein amount and the impaired IkBα degradation suggest that this new mutation, NM_003639: c.1049dupA, causes RNA or protein instability. To our knowledge, this is the first time that selection against the mutated X-chromosome in X-linked disease has been documented in vivo.
51 citations
Journal Article•
TL;DR: A neonate girl presenting with a rash and an encephalopathy who was first thought to suffer from a viral infection and was only later recognized as being affected by incontinentia pigmenti is described.
Abstract: Summary: Incontinentia pigmenti is a rare neurocutaneous disorder that may present with neurologic symptoms, in addition to a characteristic vesicular rash within the first days of life. We describe a neonate girl presenting with a rash and an encephalopathy who was first thought to suffer from a viral infection and was only later recognized as being affected by incontinentia pigmenti. Cerebral MR imaging showed extensive cortical necrosis in the acute period. Incontinentia pigmenti should be included in the differential diagnosis of encephalopathy and cutaneous involvement in neonates, after a viral infection has been ruled out.
27 citations
Journal Article•
TL;DR: The suspected diagnosis of incontinentia pigmenti (Bloch-Sulzberger syndrome) was confirmed postmortem by skin biopsy.
Abstract: A female newborn presented with emerging skin lesions, systemic eosinophilia, and eosinophilic reaction in the skin, liver, lungs, spleen, lymphatic nodes, porencephalia, convulsions, and disorders of thermoregulation. In addition to that, respiratory and heart failure, as well as brain edema were progressing. The suspected diagnosis of incontinentia pigmenti (Bloch-Sulzberger syndrome) was confirmed postmortem by skin biopsy.
22 citations
Journal Article•
TL;DR: It is seen that the father has IP2 without supernumeraries X, with the antecedent that his mother had something similar, and it is possible that the inheritance was autosomic dominant or it is a different mutation of NEMO (NF-kappa-B essential modulator) gene to a classical one, which was found in some affected men.
Abstract: UNLABELLED Incontinentia pigmenti is a genodermatosis described by Garrod and in 1920 by Bloch, Sulzberger, Siemens y Bardach. It is an ectodermic disorder that affects skin, teeth, eyes and may also have neurological problems. The IP2 name describes the histological characteristics, the incontinence of melanin into the melanocytes cells in the epidermal basal layer and its presence in superficial dermis. IP2 is an x-linked dominant condition but genetic heterogeneity may exist. CASE REPORT The patient was 4 yrs 5 months old when she came for the first time. In a physical exploration she presented sparse and thin hair, eyelashes and eyebrows, beaked nose, labial protrusion, the four central teeth have a conic crown and there was also a delayed eruption of other teeth, right eye strabismus, hipoacusia, language defects and a trunk, legs, feet, and face dermatosis characterized by grouped vesicles, hyperkeratotic and warty lesions and brownish-gray lesions in a lineal pattern. The patient s father had hypopigmented lesions in the posterior regions of both legs. The oral clinical and radiographic exams showed diverse anomalies. Both the patient's and the father's chromosomal studies were normal. DISCUSSION In the present case we can see that the father has IP2 without supernumeraries X, with the antecedent that his mother had something similar. It is possible that the inheritance was autosomic dominant or it is a different mutation of NEMO (NF-kappa-B essential modulator) gene to a classical one, which was found in some affected men. It is necessary to carry out a molecular study of these patients.
18 citations
TL;DR: A neonate with a diagnosis of incontinentia pigmenti who presented at birth with pulmonary hypertension is reported, and this presentation has not been described in the literature.
Abstract: Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a multisystem disorder with classical changing skin lesions. The other systems that are involved include the central nervous system, eye, hair, teeth, musculoskeletal system and, occasionally, the cardiovascular system. We report a neonate with a diagnosis of incontinentia pigmenti who presented at birth with pulmonary hypertension. This presentation has not been described in the literature.
16 citations
TL;DR: A newborn girl with incontinentia pigmenti (IP, MIM308300), unilateral acheiria, and fatal primary pulmonary hypertension is described, showing that these rare manifestations may not be unexpected, given the many roles of the underlying gene product.
Abstract: We describe a newborn girl with incontinentia pigmenti (IP, MIM308300), unilateral acheiria, and fatal primary pulmonary hypertension. Limb deficiency has not been described previously in IP and pulmonary hypertension only on two previous occasions. A review of the cause of IP shows that these rare manifestations may not be unexpected, given the many roles of the underlying gene product.
16 citations
TL;DR: In this article, a 65-year-old woman presented with multiple subungal lesions for the past forty years, which were associated with increasing pain with growth, relieved only by destruction.
Abstract: A 65-year-old woman presented with multiple subungal lesions for the past forty years. These were associated with increasing pain with growth, relieved only by destruction. They were treated as subungal warts by electrocautery and surgical excision. A biopsy of one lesion was interpreted as squamous cell carcinoma with subsequent partial amputation of the affected digit. She continued to develop painful subungal growths involving all her fingers, requiring repeated surgeries. On physical examination, subungal tumors associated with hyperkeratosis and erythema of the nail bed were found on the right thumb and ring finger. Subungal hyperkeratosis involved all other fingers. On histological examination, there was marked dyskeratosis with features of subungal keratoacanthoma or squamous cell carcinoma. This patient has a history of incontinentia pigmenti (IP) since childhood and she has three daughters with IP. We report a case of painful subungal dyskeratotic tumors in IP, considered as keratoacanthomas by some, as they grow rapidly and may demonstrate spontaneous resolution, albeit rarely. The distinguishing features of subungal tumor in IP are its occurrence in young women with multiple lesions and signs of IP, and its tendency to erupt persistently over a course of several years.
13 citations
12 citations
TL;DR: The findings suggest that IP may present a broad variation of dental anomalies individually, and the characteristic finding of permanent anterior teeth with a longer crown and a shorter root found in both of the authors' IP patients may be worthy of consideration in the differential diagnosis of IP.
10 citations
TL;DR: The case of a female newborn with early onset of IP lesions within the 1st day of life is presented and it is suggested that IP is associated with immune deficiency.
Abstract: Incontinentia pigmenti (IP) is a rare neurocutaneous disorder caused by mutations in the NEMO (NF-ĸB essential modulator) gene. Skin lesions are typically the first manifestation of
TL;DR: In the present family, nail changes acquired during adulthood were a clue to recognizing two cases of IP and the diagnosis can now be confirmed or excluded by molecular analysis.
Abstract: Sir, Incontinentia pigmenti (IP) is an X-linked dominant trait that is intrauterine lethal for males. The disorder is caused by NEMO mutations involving the NFkB activation pathway (1). It is characterized by linear skin lesions and various defects of the central nervous system, the teeth and the eyes. The cutaneous lesions are arranged along the lines of Blaschko, reflecting functional X-chromosome mosaicism (2). Because the diagnosis can now be confirmed or excluded by molecular analysis (1), it is possible to ascertain cases showing a rather mild or atypical involvement. In the present family, nail changes acquired during adulthood were a clue to recognizing two cases of IP.
Journal Article•
TL;DR: Incontinentia pigmenti (IP; MIM308310) is a rare neurocutaneous X-dominant inherited disorder that is observed almost exclusively in girls, but diseased boys are more seriously affected.
Abstract: Incontinentia pigmenti (IP; MIM308310) is a rare neurocutaneous X-dominant inherited disorder. Besides skin and neurological abnormalities, there is also ophthalmologic and dental involvement. The first stage is characterised by inflammation and apoptosis of the skin and central nervous system. The first stage consists of vesicles and the second of verrucous elements; the third stage is characterised by hyperpigmentation while the fourth is characterised by slightly atrophic hypopigmentations. The skin abnormalities follow the lines of Blaschko. The disorder is observed almost exclusively in girls, but diseased boys are more seriously affected. The IP gene is localised on chromosome Xq28. Mutations in the NEMO-gene are responsible for IP. This gene codes for the nuclear factor-KB essential modulator protein (NEMO; synonym: inhibitor kappaB kinase (IKK)y). In the absence of serious neurological symptoms, the prognosis is not poor
Journal Article•
TL;DR: Incontinentia pigmenti (IP; MIM308310) is a rare X-dominant inherited disorder that is characterized by inflammation and apoptosis of the skin and central nervous system.
Abstract: Incontinentia pigmenti (IP; MIM308310) is a rare neurocutaneous X-dominant inherited disorder. Besides skin and neurological abnormalities, there is also ophthalmologic and dental involvement. The first stage is characterised by inflammation and apoptosis of the skin and central nervous system. The first stage consists of vesicles and the second of verrucous elements; the third stage is characterised by hyperpigmentation while the fourth is characterised by slightly atrophic hypopigmentations. The skin abnormalities follow the lines of Blaschko. The disorder is observed almost exclusively in girls, but diseased boys are more seriously affected. The IP gene is localised on chromosome Xq28. Mutations in the NEMO-gene are responsible for IP. This gene codes for the nuclear factor-KB essential modulator protein (NEMO; synonym: inhibitor kappaB kinase (IKK)y). In the absence of serious neurological symptoms, the prognosis is not poor.
01 Jan 2005
TL;DR: A clinical case of a child patient with convulsive manifestations of difficult control and generalized dermatosis, characterized by hypopigmented zones in the skin, and initially catalogued like incontinentia pigmenti is presented.
Abstract: A clinical case of a child patient with convulsive manifestations of difficult control and generalized dermatosis, characterized by hypopigmented zones in the skin, and initially catalogued like incontinentia pigmenti is presented. The dermatosis was hypomelanosis of Ito, a rare disease caused by cellular or tissue mosaicism, with typical distribution of the dermal lesion. The biopsy of the affected skin showed reduction of the number of melanocytes and of the amount of melanin granules, by the Fontana-Masson technique.
Journal Article•
TL;DR: A 6 year-old female with IP had congenital missing of primary and permanent teeth, delayed eruption, maxillary deficiency and extra cusps, resulting in unstable occlusion, which is typical character of IP.
Abstract: Incontinentia pigmenti(IP), so called Block-Sulzberger syndrome is a rare genodermatosis that occurs almost in female infant; usually lethal in males, X-linked dominantly inherited disorder. IP is characterized by abnormalities of mesodermal and ectodermal tissues including eye, tooth, skin, nail, breast and hair as well as neurological deficiencies. Dental problems are congenital missing of teeth, delayed eruption, abnormal crown shape and so on. Here is a case of 6 year-old female with IP. She had congenital missing of primary and permanent teeth, delayed eruption, maxillary deficiency and extra cusps, resulting in unstable occlusion. Systemically, she had a history of operating eyes due to problem of retina and hyperpigmented macules on her trunk and extremities as typical character of IP.