Melanosis neurocutanea Q03.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

mélanoblastosis neurocutanée; Melanoblastosis Syndrome; Melanoblastosis syndrome neurocutaneous; Melanosis neurocutaneous; NCM; Neurocutaneous melanocytosis; Neurocutaneous melanosis

History
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Virchow, 1859; Rokitanski, 1861

Definition
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Rare (congenital) non-hereditary, neuroectodermal dysplasia with multiple, disseminated, mostly extensive melanocytic nevi of the skin and leptomeninx, possibly also of the brain and spinal cord. Further cerebral hamartomas may be associated. It is not uncommon for an internal hydrocephalus to develop.

Occurrence/Epidemiology
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Prevalence: Approximately 1/20,000 newborns.

Etiopathogenesis
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Neurocutaneous phacomatosis. Heredity's not clear. Pathogenetically melanocytic nevi at the leptomeninx lead by proliferation to hydrocephalus internus with corresponding neurological symptoms.

Manifestation
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The melanocytic nevi exist from birth. Neurological symptoms are usually developed until the age of 2.

Localization
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Melanocytic giant nevi with distribution on the head, neck, back, bathing trunks area. Smaller melanocytic nevi are often diffusely distributed over the whole integument.

Clinical features
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  • Large congenital melanocytic nevus (> 20 cm in adults, 6-9 cm in infants). The large congenital melanocytic nevi (LCMN) are located on the trunk in > 50% of patients, and on the head and upper arm/thigh in 15% of patients. Mostly dense sowing of small spots, occasionally also large, differently pigmented, congenital nevi of varying intensity, which may also affect palms of hands and soles of feet.
  • Melanomas developing already in infancy, often with aggressive growth.
  • A part of the patients with neurocutaneous melanosis remains asymptomatic.
  • Symptomatic forms with the development of neurological symptoms (hydrocephalus with cerebral pressure symptoms, convulsions, disturbances of consciousness, spinal cord compression) occur in 7- 10% of cases with LCMN. Furthermore, hemiplegic brain malformations with polymicrogyria, pachygyria and sublobular dysplasia have been reported (Kumar I et al. 2019).
  • Apparently, leptomenigeal involvement is more frequent in patients with LCMN and satelliteosis.
  • Danger of developing leptomeningeal melanoma! Also described are proliferating neurogenic hamartomas, as well as cerebellar astrocytomas (Garrido MC et al. 2019; Wang X et al. 2018)
  • Also in the congenital melanocytic giant nevi there is an above-average risk of melanoma development.

Therapy
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  • Dermatological: The skin symptoms are primarily used as leading symptoms. Otherwise excision of conspicuous nevus areas, therapy attempts by means of early dermabrasion are successful, but are out of question because of the multiplicity of the large-area nevi.
  • Neurological: In the presence of extensive or multiple pigment nevi, clarification of neurological involvement by MRI should be discussed. .
  • In case of acute symptoms (in early childhood, e.g. frequently hydrocephalus internus) neurosurgical intervention.
  • Prevention: Important (but unfortunately without consequence) is the lifelong monitoring and specific clarification of neurological symptoms by MRI or CT.

Progression/forecast
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Unfavorable; A part of the affected patients dies within the first 3 years after the onset of symptoms. The neurological involvement often leads to internal hydrocephalus with cerebral pressure symptoms.

Note(s)
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Remember! Patients with large congenital melanocytic nevi (10-20 cm) and giant melanocytic nevi (> 20 cm) have a significantly higher risk of neurocutaneous melanosis. The risk is even higher if multiple satellite nevi are present in the vicinity of a giant melanocytic nevus, the melanocytic nevi are disseminated throughout the whole integument and are located in the so-called "posterior axis localization" (head, neck, back, buttocks).

Literature
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  1. Ahmed I et al (2002) Neurocutaneous melanosis in association with encephalocraniocutaneous lipomatosis. J Am Acad Dermatol 47: S196-200
  2. Chen AC et al (2012) Clinical characteristics and risks of largecongenital melanocytic naevi: a review of 31 patients at the Sydney Children's Hospital. Australas J Dermatol 53:219-223
  3. Frieden IJ et al (1994) Giant congenital melanocytic nevi: brain magnetic resonance findings in neurologically asymptomatic children. J Am Acad Dermatol 31: 423-429
  4. Garrido MC et al(2019) Proliferating Neurocristic Hamartoma Arising in a Giant Congenital Nevus: Comparative Genomic Hybridization Findings. At J Dermatopathol 41:438-442.

  5. Sharouf F et al (2018) Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: case-based update. Childs nerve syst 34:1471-1477.

  6. Kadonaga JN et al (1991) Neurocutaneous melanosis: Definition and review of the literature. J Am Acad Dermatol 24: 747-755
  7. Kim SJ et al (2014) A giant congenital melanocytic nevus associated with neurocutaneous melanosis. Clin Neuroradiol 24:177-184Koksal N et al. (2003) Neurocutaneous melanosis with transposition of the great arteries and renal agenesis. Pediatric Dermatol 20: 332-33
  8. Kumar I et al (2019) Posterior quadrantic dysplasia with localized hemimegalencephaly in a patientwith giant congenital melanocytic nevus: First case report. Neuroradiol J 32:210-214.

  9. Mehregan AH et al (1993) Malignant melanoma in childhood. Cancer 71: 4096-4103

  10. Sharouf F et al (2018) Neurocutaneous melanosis presenting with hydrocephalus and malignant transformation: case-based update. Childs nerve syst 34:1471-1477.

  11. Sibbald C et al (2015) Neurocutaneous melanosis and congenital melanocytic naevi: a retrospective review of clinical and radiological characteristics. Br J Dermatol doi: 10.1111/bjd.13949
  12. Siddiqui MA et al (2015) Neurocutaneous melanosis: Review of a rare non-familial neuroectodermal dysplasia with newer association of cerebellopontine angle cistern lipoma. Neuroradiol J 28:222-226
  13. Tartler U et al (2004) Neurocutaneous melanosis and malignant melanoma. Dermatologist 55: 971-974
  14. Touraine A (1941) La mélanoblastosis neurocutanée. Press Méd 49: 1087-1088
  15. von Rokitansky C (1861) An excellent case of pigment mark with extended pigmentation of the inner meninges of the brain and spinal cord. Allg Wiener Med Ztg 15: 113-116
  16. Vadoud-Seyedi R et al (1994) Neurocutaneus Melanosis. Dermatology 188: 62-65
  17. Virchow R (1859) Pigment and diffuse melanosis of arachnoides. Virchows Arch Path Anat 16: 180-187
  18. Wang X et al (2018) Giant congenital melanocytic nevus associated with cerebellar astrocytoma. Eur J Dermatol 28:254-255.

Outgoing links (1)

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Last updated on: 29.10.2020