Naevus-spilus-papulosus syndrome Q87.14

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

OMIM 137550; Speckled lentiginous nevus syndrome; Speckled lentiginous nevus: within the spectrum of congenital melanocytic nevi

Definition
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The nevus-spilus-papulosus sydrome, a neurocutaneous syndrome (Ramolia P et al. 2009), is characterized by a nevus spilus (speckled lentiginous nevus) of the papular type and by neurological anomalies, mostly ipsilaterally localized, in the form of motor neuropathies with muscle atrophies (Greywal T et al. 2018) or sensory neuropathies such as hyperhidrosis and/or dysesthesia (Happle R 2002).

Etiopathogenesis
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mutation in the HRAS gene (11p15.5)

Differential diagnosis
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Literature
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  1. Greywal T et al (2018) Speckled lentiginous nevus: A rare presentation associated with motor neuropathy and muscular atrophy in a child. Pediatric Dermatol 35:e161-e162.
  2. Happle R (2002) Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol 12:133-135.
  3. Mendes M et al (2016) Speckled lentiginous nevus syndrome. Int J Dermatol 55:e602-e604.
  4. Liu X et al (2015) Speckled lentiginous nevus syndrome associated with an abnormality of tongue. J Dermatol 42:433-434.
  5. Ramolia P et al (2009) Speckled lentiginous nevus syndrome associated with musculoskeletal abnormalities. Pediatric dermatol 26:298-301.
  6. Schaffer JV et al (2001) Speckled lentiginous nevus: within the spectrum of congenital melanocytic nevi. Arch Dermatol 137: 172-178

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Last updated on: 29.10.2020