Naevus-spilus-papulosus-SyndromQ87.14
Synonym(e)
OMIM 137550; Speckled lentiginous nevus syndrome; Speckled lentiginous nevus: within the spectrum of congenital melanocytic nevi
Definition
Das Naevus-spilus-papulosus-Sydrom, ein neurokutanes Syndrom (Ramolia P et al. 2009), ist durch einen Naevus spilus (Speckled lentiginous nevus) vom papulösen Typ sowie durch, zumeist ipsilateral lokalisierte, neurologische Anomalien in Form von motorischen Neuropathien mit Muskelatrophien (Greywal T et al. 2018) oder sensorischen Neuropathien wie Hyperhidrose und/oder Dysästhesien gekennzeichnet (Happle R 2002).
Ätiopathogenese
Mutation im HRAS-Gen (11p15.5)
Differentialdiagnose
Literatur
- Greywal T et al. (2018) Speckled lentiginous nevus: A rare presentation associated with motor neuropathy and muscular atrophy in a child. Pediatr Dermatol 35:e161-e162.
- Happle R (2002) Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol 12:133-135.
- Mendes M et al. (2016) Speckled lentiginous nevus syndrome. Int J Dermatol 55:e602-e604.
- Liu X et al. (2015) Speckled lentiginous nevus syndrome associated with an abnormality of tongue. J Dermatol 42:433-434.
- Ramolia P et al. (2009) Speckled lentiginous nevus syndrome associated with musculoskeletal abnormalities. Pediatr Dermatol 26:298-301.
- Schaffer JV et al. (2001) Speckled lentiginous nevus: within the spectrum of congenital melanocytic nevi. Arch Dermatol 137: 172-178