Incontinentia pigmenti, or Block–Sulzberger Syndrome, is an X‐linked dominant disorder with characteristic skin, hair, eye and tooth abnormalities. It is classically considered a male‐lethal disorder ...with recurrent miscarriages of male foetuses. A few cases of surviving males with incontinentia pigmenti have been reported in the medical literature. This article reports the medical and dental findings of a boy diagnosed with incontinentia pigmenti.
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BFBNIB, CMK, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SAZU, SBCE, SBMB, UL, UM, UPUK
A large number of diseases can mimic a vasculitis. The diagnosis can be challenging due to the similarity with several diseases that have a different pathogenesis. As reported in the literature, ...incontinentia pigmenti (IP), a rare genetic disorder, can present vascular alterations on eye, brain and lung. We report a case of peripheral arterial disease in a patient with IP, suggesting further vascular localizations of the disease.
Neonatal incontinentia pigmenti Sashikumar, Palaniappan; Mukherjee, Samudra
BMJ case reports,
10/2010, Volume:
2010, Issue:
oct18 2
Journal Article
Peer reviewed
Open access
The skin manifestation is evident soon after birth, as an erythematous eruption with linear vesiculation, followed by a verrucous stage. 2 After a few months the verrucous growth drops off and leaves ...hyperpigmented areas.
To report the ocular histopathologic features of a 55-year-old patient with incontinentia pigmenti retinopathy.
Observational case report.
A 55-year-old patient with incontinentia pigmenti ...retinopathy.
Examination of eyes by light microscopy and retinal trypsin digestion.
Clinical and histopathological findings.
Histopathologic examination disclosed inner retinal ischemic atrophy, capillary beading, arteriolar-venous anastomoses, preretinal neovascularization, vasculopathy located at the junction of central vascular and peripheral avascular retina, retinal tears, and tractional retinoschisis.
Patients with retinal manifestations of incontinentia pigmenti may progress to proliferative vitreoretinopathy or retinal detachment and should be observed closely over the course of their lifetime.
Among the conditions that are included under the heading of “neurocutaneous disorders” are neurofibromatosis 1, tuberous sclerosis complex, von Hippel-Lindau, incontinentia pigmenti, Sturge-Weber ...syndrome, hypomelanosis of Ito, and linear nevus sebaceous syndromes. The clinical features, pathogenesis, and neurobiological basis of some of these disorders are discussed in other articles in this issue. We will focus on genetic aspects of a selected subgroup of these conditions, concentrating on the genetic defect, mutation spectrum, clinical genetic testing, and issues pertinent to counseling.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
Incontinentia pigmenti (IP) is an X-linked dominant disorder that is seen in females. Although the medical literature has focused strongly on the skin manifestations of IP, there is lack of ...comprehensive reviews focused on delayed nail lesions of IP. The authors thus tabulated reported nail changes in IP with a focus on diagnosis and management of this delayed nail presentations. This review emphasizes several observations with strong clinical relevance to management of IP. In particular, nail lesions may be additional clue to vague or late-presenting cases of IP. Nail lesions are most common on the first three digits of the hands, can affect multiple digits on multiple limbs, present from three to 45 years of age, and present on average over 20 years after skin lesions present. Clinically, nail lesions can be subtle and often are indicators of underlying tumor. Finally, nail lesions are delayed and destructive in nature, despite the clinically resolved cutaneous lesions, and require continual vigilance by pediatricians and dermatologist.
Case reports of incontinentia pigmenti in males Gupta, Khushboo; Padhiar, Bela; Karia, Umesh ...
Indian Journal of Dermatology/Indian journal of dermatology,
07/2013, Volume:
58, Issue:
4
Journal Article
Peer reviewed
Open access
Incontinentia pigmenti is an X-linked dominant disorder, which is fatal in males, and majority of cases reported are in females. Here, we report 2 cases of males with incontinentia pigmenti. Case 1 ...has progressed through the classical stages of IP, giving history of vesicular and verrucous lesions and has presented with hyperpigmentation in whorled pattern. Case 2 has vesicular lesions in a linear distribution on the legs along with classical histopathological findings.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Resumen La incontinencia pigmentaria (IP2, síndrome de Block-Sulzberger) es un raro caso de genodermatosis de herencia ligado a X dominante, afectando en su mayoría a mujeres. Consiste en una serie ...de manifestaciones de la piel, desordenes dentarios, oculares, neurológicos, y otros. Nosotros presentamos un caso de incontinencia pigmentaria con las clásicas manifestaciones cutáneas asociado a fisura palatina.
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CMK, GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
Incontinentia pigmenti (IP) is a rare genodermatosis. Skin lesions, that are present in all patients affected, evolve in stages. The first is the erythematous blistering stage, wich differential ...diagnosis includes a wide variety of diseases. We present a case of a female neonate with blisters present at birth, where the skin biopsy confirmed the diagnosis of IP.
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