Incontinencia pigmenti. Estudio descriptivo de la experiencia en dos centros hospitalarios / Incontinentia pigmenti. A descriptive study of experience in two different hospitals

Introducción: La incontinencia pigmenti es una genodermatosis poco frecuente, de herencia ligada al cromosoma X, que afecta a tejidos derivados del ectodermo. Nuestro objetivo es revisar de la forma más completa posible los casos diagnosticados en edad pediátrica en dos hospitales. Material y métodos: Se ha realizado un estudio transversal retrospectivo, recogiéndose datos clínicos, analíticos, radiológicos y genéticos valorados a nivel multidisciplinar de pacientes diagnosticados en la edad pediátrica de incontinencia pigmenti desde el año 2004 al 2018. Resultados: Se incluyeron 13 pacientes diagnosticados de incontinencia pigmenti, todas de sexo femenino. Se realizó estudio genético en 11 de las 13, confirmándose alteraciones compatibles en 10 de ellas. Se observó afectación extracutánea relacionada con la enfermedad a nivel neurológico (con alteraciones radiológicas en 6 casos y expresión clínica en 3 de ellas), oftalmológico (4 casos), odontológico (7 casos) y hematológico (4 casos). Conclusiones: Presentamos el estudio más completo publicado hasta ahora de incontinencia pigmenti en España. Los resultados del estudio de las manifestaciones de la enfermedad fueron similares a las series de casos más amplias publicadas a nivel internacional y refuerzan la importancia de un estudio y seguimiento multidisciplinar

Introduction: Incontinentia pigmenti is a rare genodermatosis of inheritance linked to the X chromosome that affects tissues derived from ectoderm. The aim of the study is to review, as completely as possible, the cases diagnosed in paediatric patients in two hospitals. Material and methods: A retrospective cross-sectional study was carried out, using the clinical, analytical, radiological, and genetic data of paediatric patients diagnosed with incontinentia pigmenti from 2004 to 2018. The data collected were analysed and evaluated at a multidisciplinary level. Results: A total of thirteen patients diagnosed with incontinentia pigmenti were included in the study. All of them were female. A genetic study was performed on 11 patients, which confirmed findings compatible with incontinentia pigmenti in 10 of them. Extracutaneous involvement associated with the disease was observed at neurological level (radiological findings in 6 cases, and clinical expression in 3 of them), ophthalmological level (4 cases), dental level (7 cases), and haematological level (4 cases). Conclusions: A presentation is given of the most complete study published so far of incontinentia pigmenti in Spain. In this study, the results of the disease manifestations were similar to the largest case series published internationally, which reinforces the importance of a multidisciplinary study and follow-up

Necrotizing enterocolitis after intravitreal bevacizumab in an infant with Incontinentia Pigmenti - a case report.

BACKGROUND: Incontinentia Pigmenti is a rare disease affecting multiple organs. Fifty of patients show affection of the eye with retinopathy and possible amaurosis being the worst outcome. Treatment has commonly been panretinal laser coagulation but intravitreal application of bevacizumab as VEGF-inhibitor has shown to effectively suppress retinal neovascularization. CASE PRESENTATION: A six-week-old female infant with Incontinentia Pigmenti developed a foudroyant necrotizing enterocolitis shortly after intravitreal injection of bevazicumab due to a retinopathy with impending tractional detachment of the left eye. Since the onset of abdominal symptoms occurred immediately after the intravitreal application, a link between the two events seemed likely. Sequential analyses of the VEGF serum concentrations showed a massive suppression of endogenous VEGF with only a very slow recovery over weeks. Such a severe systemic adverse event has not been reported after intravitreal treatment with bevacizumab in an infant. CONCLUSION: This case report shows a relevant systemic uptake of bevacizumab after intravitreal application as suppressed VEGF levels show. There seems to be a connection between suppressed VEGF levels and the onset of necrotizing enterocolitis. Therefore, treatment with bevacizumab should be carefully considered and further research is needed to assess this drug's safety profile.

Incontinencia pigmenti / Incontinentia Pigmenti

La incontinencia pigmenti (síndrome de Bloch-Sulzberger) es una displasia neuroectodérmica infrecuente, con patrón de herencia ligado al X dominante, causada por mutaciones en el gen IKBKG/NEMO y se encuentra localizado en Xq28. La deleción del exón 4 al 10 corresponde con la principal causa en aproximadamente el 80% de los casos. La incidencia estimada es de 0,7 en 100.000 nacimientos, usualmente letal en hombres hemicigotos y en el sexo femenino puede exhibir hallazgos clínicos variables. Es una entidad multisistémica, que incluye defectos en la piel, siempre presente y principal criterio diagnóstico, la cual evoluciona en cuatro etapas, asociada a alteraciones en el sistema nervioso central, globo ocular, dientes, glándula mamaria, pelo, uñas, entre otros. El objeto de esta breve revisión es resaltar los hallazgos clínicos de esta genodermatosis, con la finalidad de brindar el seguimiento médico individualizado e interdisciplinario que incluya un adecuado asesoramiento genético familiar

Incontinentia pigmenti (Bloch-Sulzberger syndrome) is a rare neuroectodermal dysplasia. It is an X-linked dominant disorder caused by mutations in the IKBKG/NEMO gene on Xq28. Approximately 80% of patients have a deletion of exons 4 to 10. Incontinentia pigmenti has an estimated incidence of 0.7 cases per 100,000 births. In hemizygous males, it is usually lethal, while in females, it has a wide spectrum of clinical manifestations. Incontinentia pigmenti is a multisystemic disease that invariably features skin changes. These changes are the main diagnostic criteria and they evolve in 4 stages, in association with other abnormalities affecting the central nervous system, eyes, teeth, mammary glands, hair, nails, skin, and other parts of the body. The aim of this brief review is to highlight the clinical features of this genodermatosis and underline the importance of case-by-case interdisciplinary management, including genetic counseling

Keratoacanthoma-Like Growths of Incontinentia Pigmenti Successfully Treated with Intralesional Methotrexate.

We report the case of a 17-year-old girl with incontinentia pigmenti who developed multiple large hyperkeratotic tumors within Blaschkoid hyperpigmented patches on her left leg. Biopsy demonstrated an endoexophytic nodule with irregular invaginations of keratinizing squamous epithelium and a central keratin-filled crater, consistent with keratoacanthoma-like lesions of incontinentia pigmenti. The tumors were successfully treated with intralesional methotrexate.

High-dose glucocorticoid therapy in the management of seizures in neonatal incontinentia pigmenti: a case report.

Incontinentia pigmenti is an X-linked dominant disorder resulting from a mutation of IKBKG. This disorder has a classic dermatologic presentation, but neurologic involvement, with seizures and cortical infarction, can arise shortly after birth. There are no specific therapies available for the manifestations of incontinentia pigmenti. Here, we describe the clinical, electrographic, and neuroradiologic effect of systemic glucocorticoid therapy in a neonate with incontinentia pigmenti manifesting an epileptic encephalopathy. Treatment with dexamethasone led to a dramatic reduction in seizure activity and improvement in bullous lesions. A novel mutation in IKBKG is also reported.

Incontinentia pigmenti: treatment of IP with topical tacrolimus.

Incontinentia pigmenti (IP), or Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis primarily affecting females. Although IP affects many organ systems, the hallmark feature of this disease is its characteristic cutaneous eruption along the lines of Blaschko that evolves through four distinct stages: inflammatory/vesiculobullous, verrucous, hyperpigmented and hypopigmented/ atrophic. We describe a case of IP in its vesicular stage that completely resolved with topical Protopic (tacrolimus) 0.1% ointment. The treatment successfully halted the progression of disease through its subsequent disfiguring stages.

Therapeutic use of topical corticosteroids in the vesiculobullous lesions of incontinentia pigmenti.

Incontinentia pigmenti (IP) is a rare genodermatosis caused by a mutation of nuclear factor kappa B essential modulator gene. There is no specific treatment for IP, therefore it has been claimed that there is no effective treatment to hasten resolution of any of the phases of IP. However, the initial vesiculobullous stage of IP is characterized histopathologically by eosinophilic inflammation, which is expected to respond to corticosteroids. An 18-day-old female neonate was seen, with vesicles on her trunk and limbs diagnosed as the vesiculobullous stage of IP. The patient was treated with a double-compound cream containing a potent corticosteroid (difluocortolone valerate 0.1%) and an antiseptic (chlorquinaldol 1%), to be applied to the lesions twice daily. Five days later, resolution of the lesions was almost complete. As chlorquinaldol has no known anti-inflammatory activity, we attribute this improvement to difluocortolone valerate. This case shows that early lesions of IP with eosinophilic inflammation are treatable.

Detection of HPV-15 in painful subungual tumors of incontinentia pigmenti: successful topical therapy with retinoic acid.

Incontinentia pigmenti (IP) is an X-linked dominant disorder, which occurs in female patients. We present a typical case of IP with subungual tumors (STIP) together with a short review on subungual tumors in IP. The diagnosis was achieved on the basis of the onset in adult life of STIP together with the other specific symptoms like ocular and dental abnormalities and achromic lesions of the legs. In the STIP lesions the presence and, in one of them, the expression, of HPV type 15 were detected. Topical therapy with retinoic acid cured the tumoral lesions. To the best of our knowledge this is the first report of HPV in STIP, opening a new scenario in the pathogenesis and the treatment of STIP. In conclusion, in our opinion, all painful subungual tumors should be considered as a possible late manifestation of IP.

Incontinentia pigmenti in combination with decreased IgG subclass concentrations in a female newborn.

Incontinentia pigmenti (IP) is a rare neurocutaneous disorder caused by mutations in the NEMO (NF-kappaB essential modulator) gene. Skin lesions are typically the first manifestation of IP though they may be accompanied by multiple malformations. This report presents the case of a female newborn with early onset of IP lesions within the 1st day of life. After the age of 1 month she developed frequent episodes of severe gastroenteritis. Examination of the immune system revealed low concentrations of IgG subclasses. This study suggests that, contrary to previous belief, IP is associated with immune deficiency.

[Prurigo pigmentosa]. / Prurigo pigmentosa.

Prurigo pigmentosa is rather frequently observed in Japan. By contrast, this skin disease has so far rarely been reported in German speaking countries or elsewhere in Europe. In order to make the European dermatologists familiar with this peculiar skin disease, the epidemiological features as well as the clinical and histopathological findings are reviewed. The disease can be discriminated from prurigo simplex subacuta by the typical reticular hyperpigmentation, by the sparing of arms and legs and by the response to treatment with dapsone or minocycline. Additional differential diagnostic possibilities include lichen amyloidosus and confluent and reticulate papillomatosis of Gougerot-Carteaud. Diabetes or malnutrition may represent etiological factors. Because this unusual skin disease may also occur in Europe, dermatologists here should include prurigo pigmentosa in the differential diagnosis of acquired pigmentary disorders.

Incontinencia pigmenti: casos clínicos y discusión / Incontinentia pigmenti: clinical case and discussion

La incontinencia pigmenti es una genodermatosis poco frecuente que afecta casi exclusivamernte a las mujeres. Describimos dos recién nacidos de sexo masculino, que desde el nacimiento presentan lesiones, caracterizadas por vesículas y pústulas sobre una base eritematosa y que seguían una distribución lineal. La biopsia de piel de ambos casos fue concordante con el diagnóstico de incontinencia pigmenti, primera etapa. Ninguno de ellos evidenció compromiso de otros órganos hasta los cuatro y seis meses de edad respectivamente. La escasez de casos masculinos descritos en la literatura motivó esta publicación

An unusual presentation of incontinentia pigmenti in a 4-month-old girl.

A four month old girl initially presented with a crusted nodule on her right index finger. Evaluation was unremarkable for infectious causes or malignancy. She ultimately developed similar hyperkeratotic plaques and papules of the right hand and ultimately linear hyperpigmented patches of her arms and legs. The diagnosis of Incontinentia Pigmenti (IP) was then made. The diagnosis of IP and the differential diagnosis of IP-like lesions is presented.