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41. B
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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.
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.

    Packet No. 16 27255 INCONTINENTIA PIGMENTI =ip blochsulzberger syndrome incontinentiapigmenti type i ip1 incontinentia pigmenti sporadic type key words

    45. B
    Blenorrhea, acute, 98100, 1. Blepharochalasis, 374300, 1. blochsulzberger syndrome,757361, 22. Blue Nevus, 216902, 8. Bockhart impetigo, 680900, 4. Boeck´s Disease,108, 1.
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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.
    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
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    55. Genetic
    KID syndrome keratitis, ichthyosis, and deafness. Incontinentia pigmenti(blochsulzberger syndrome) X linked dominant (97% females - males die);
    • Oculocutaneous albinism
      Hair, skin and eyes
      Photophobia and squinting
      Ocular albinism
      Skin normal
      Iris translucent
      Poor visual acuity
      X Linked auto-recessive
    Darier's disease
    • Red to brown skin papules and scales, nail anomalies Corneal opacities
    • 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

    congenital CMV infection. 2. Genetic or Chromosomal Disorders. MeckelGruberSyndrome; bloch-sulzberger syndrome; Fukuyama's cerebromuscular dystrophy;
  • Pediatric Database (PEDBASE)
  • Discipline: CNS
  • Last Updated: 5/22/94
    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.
    • incidence: ?
    • age of onset:
      • infancy to childhood
    • risk factors:
      • a circulatory disorder in utero (see below)
    • associated anomalies:
      • other migration disorders
        • grey matter heterotopias
        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
    (IP1); gene ? F M (201); lethal in males. PATHOGENESIS 1. Background. firstdescribed by M. Bardach in 1925; also called blochsulzberger syndrome or Disease;
  • Pediatric Database (PEDBASE)
  • Discipline: CNS
  • Last Updated: 9/03/97
    A neurocutaneous syndrome characterized by cutaneous, neurologic (neonatal seizures), and ocular manifestations.
    • 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
      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)
      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
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    59. Ask AllDoctors
    Back. blochsulzberger syndrome. (Incontinentia Pigmenti). DESCRIPTIONRare skin disease of newborn infants. Affects females only.
    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
    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.
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