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43. Infectious Diseases In Children Answer. This case turned out to be incontinentia pigmenti (IP), an Xlinked dominantdisorder with mortality in males, also known as bloch-sulzberger syndrome. http://idinchildren.com/200104/WYD.asp

Breaking News and Commentary A monthly case study with treatment information and discussion to follow. by Rebecca M. Riser, MD, and James H. Brien, DO April 2001 Physical exam confirmed normal vital signs and revealed a mildly jaundiced infant with an erythematous, vesicular rash in whorl patterns over the parietal and occipital area of the scalp, the trunk and inner thighs, sparing the face (figures 1-6). The remainder of the exam was normal. The patient had viral, bacterial and fungal cultures and stains performed on the lesions, and was empirically treated with intravenous acyclovir for the possibility of neonatal HSV infection. Bacterial and fungal stains were negative. The patient was monitored in the NICU and otherwise treated normally. Dermatology obtained a biopsy of one of the lesions that showed numerous eosinophils within the superficial dermis and an area of hyperkeratosis. What's Your Diagnosis? Neonatal herpes simplex virus infection Neonatal candidiasis Erythema toxicum Incontinentia pigmenti Answer This case turned out to be incontinentia pigmenti (IP), an X-linked dominant disorder with mortality in males, also known as Bloch-Sulzberger syndrome. Females with IP are mosaics. Variable presentation among patients is thought to be due to Lyonization. The term IP describes the histologic feature where there is incontinence of the melanocytes in the basal layer of the epidermis into the superficial dermis.

44. THE LIGHTNING HYPERTEXT OF DISEASE. Packet No. 16 27255 INCONTINENTIA PIGMENTI =ip blochsulzberger syndrome incontinentiapigmenti type i ip1 incontinentia pigmenti sporadic type key words http://www.pathinfo.com/cgi-bin/lh.cgi?tx=incontin

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47. Incontinentia Pigmenti Landy SJ, Donnai D. Incontinentia pigmenti (blochsulzberger syndrome). J MedGenet 1993;3053-9. Nelson-Adesokan P, Mallory SB. Incontinentia pigmenti. http://www.kfshrc.edu.sa/annals/205_206/00-070.htm

Incontinentia Pigmenti Sultan Al-Khenaizan, MBBS, FRCPC Incontinentia pigmenti (IP) is an X-linked dominant (XLD) disorder that was first described in 1906 by Garrod, and subsequently named after Bloch and Sulzberger. The skin lesions in IP follow four well-characterized successive stages: vesicular, verrucous, whorl or streak-like hyperpigmentation, and hypopigmented scars. Skin appendages, including hair and teeth are commonly affected in IP, with scarring alopecia and peg-shaped teeth. IP also affects many other body systems, most commonly the central nervous system (CNS) and the eyes. Almost all patients with IP are females because of the lethality of the disease in males. Case Report From the Department of Medicine, King Fahad National Guard Hospital, Riyadh, Saudi Arabia. leaving no marks. The rest of the physical examination was unremarkable. Skin examination of the mother revealed multiple white, hypopigmented atrophic swirls and streaks along the Blaschko lines. Mouth examination revealed hypodontia and conical widely spaced teeth. The diagnosis of incontinentia pigmenti was made. CT scan and MRI of the brain revealed no abnormality. Electroencephalogram study was normal and there were no more seizures. The infant was discharged home in good condition on oral phenobarbitol. At three months' follow-up, the pigmentation had extended to most of the lower extremities and sides of the trunk (Figure 1), with no other skin changes. Neurological examination by the neurologist was normal.

48. WebMD - Siemens Incontinentia Pigmenti Melanoblastosis Cutis Linearis nord BlochSiemens-SulzbergerSyndrome nord bloch-sulzberger syndrome nord Blocked Artery http://my.webmd.com/content/healthwise/47/11580.htm

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55. Genetic KID syndrome keratitis, ichthyosis, and deafness. Incontinentia pigmenti(blochsulzberger syndrome) X linked dominant (97% females - males die); http://www.visioneyedoctor.com/genetic1.htm

Albinism Oculocutaneous albinism Hair, skin and eyes Auto-recessive Photophobia and squinting Ocular albinism Skin normal Nystagmus Iris translucent Poor visual acuity X Linked auto-recessive Darier's disease Red to brown skin papules and scales, nail anomalies Corneal opacities Ichthyosis Skin scaling Scales on lashes and lids, SPK Some forms have white cornea stromal opacities "KID syndrome": keratitis, ichthyosis, and deafness Incontinentia pigmenti (Bloch-Sulzberger syndrome) X linked dominant (97% females - males die) "Marble cake" skin hyperpigmentation Nipple defects Retinal pigment changes Retinal vascular occlusion and neovascularization Hypomelanosis of Ito Hypopigmented whorls in skin Strabismus, pin-point pupils Xeroderma pigmentosum Extreme photosensitivity, pterygia, dry eye Carcinomas Ehlers-Danlos syndrome Hyperextensible skin and joints Skin scars easily Keratoconus, blue sclera, angiod streaks, subluxation of lens Juvinile Xanthogranuloma Rubbery skin nodules on head and neck Iris tumor, spontaneous hyphema, glaucoma

56. MICROGYRIA congenital CMV infection. 2. Genetic or Chromosomal Disorders. MeckelGruberSyndrome; bloch-sulzberger syndrome; Fukuyama's cerebromuscular dystrophy; http://www.icondata.com/health/pedbase/files/MICROGYR.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 5/22/94 MICROGYRIA DEFINITION: A disorder of neuronal migration characterized by an excess of secondary sulcation of the cerebral hemispheres resulting in a brain with a complex convolutional pattern. EPIDEMIOLOGY: incidence: ? age of onset: infancy to childhood risk factors: a circulatory disorder in utero (see below) associated anomalies: other migration disorders grey matter heterotopias PATHOGENESIS: 1. Background an insult prior to 24 weeks gestational age does not affect primary sulcation but leads to an excess of secondary and tertiary sulcation which results in gyri that are small and numerous the insult alters the circulation to the affected areas at a specific time and interferes with secondary and teritary sulcation 2. Insults 1. Infections congenital CMV infection 2. Genetic or Chromosomal Disorders Meckel-Gruber Syndrome Bloch-Sulzberger Syndrome Fukuyama's cerebromuscular dystrophy Thanatophoric Dysplasia Inherited Disorders of Metabolism Zellweger's Syndrome Neonatal adrenoleukodystrophy (NALD) 3. Toxic or Environmental

57. INCONTINENTIA PIGMENTI (IP1); gene ? F M (201); lethal in males. PATHOGENESIS 1. Background. firstdescribed by M. Bardach in 1925; also called blochsulzberger syndrome or Disease; http://www.icondata.com/health/pedbase/files/INCONTIN.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 9/03/97 INCONTINENTIA PIGMENTI DEFINITION: A neurocutaneous syndrome characterized by cutaneous, neurologic (neonatal seizures), and ocular manifestations. EPIDEMIOLOGY: incidence: over 700 cases reported age of onset: first few weeks of life risk factors: familial - x-linked dominant chrom.#: Xq28 (familial type); Xp11.21-cen. (IP1) gene: ? F > M (20:1) lethal in males PATHOGENESIS: 1. Background first described by M. Bardach in 1925 also called Bloch-Sulzberger Syndrome or Disease is considered a disorder of the ectoderm involving multiple systems (i.e., skin, eyes, teeth, hair, bone, nervous system) CLINICAL FEATURES: 1. Cutaneous Manifestations - 4 phases 1. Vesicular Phase begins at birth or within the first few weeks of life linear, erythematous (red) streaks with plaques of vesicles which are replaced by bullae (blisters) lesions appear on the limbs and around the trunk this phase usually resolves by 4 months of age but blisters may develop during fevers throughout childhood 2. Verrucous Phase

58. Disease Reference Blastomycosis Bleeding disorders Bleeding esophageal varices Blepharitis BlepharospasmBlind loop syndrome blochsulzberger syndrome Blocked nasolacrimal duct http://www.rwjhamilton.org/Atoz/Encyclopedia/diseaseB.asp

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59. Ask AllDoctors Back. blochsulzberger syndrome. (Incontinentia Pigmenti). DESCRIPTIONRare skin disease of newborn infants. Affects females only. http://www.alldoctors.com.au/ask_doctor/Alb_b/ab_918.asp

Back Bloch-Sulzberger Syndrome (Incontinentia Pigmenti) DESCRIPTION: Rare skin disease of newborn infants. Affects females only as males die as a foetus and are passed as a miscarriage. CAUSE: Congenital. SYMPTOMS: Lines of grouped blisters on skin that become warty then subside to leave pigmented streaks. May also cause brain, dental and eye abnormalities. INVESTIGATIONS: Abnormal blood tests. TREATMENT: None available. PROGNOSIS: Incurable.

60. Ask AllDoctors Blastomycosis. Blepharitis. Blighted Ovum. See Miscarriage. blochsulzberger syndrome.(Incontinentia Pigmenti). Blocked Tear Duct. See Conjunctivitis. Blood Poisoning. http://www.alldoctors.com.au/ask_doctor/Alb_b/abb_main.asp

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