Speckled Lentiginous Nevus Syndrome Associated with Musculoskeletal Abnormalities

Abstract

Speckled lentiginous nevus syndrome is a recently described neurocutaneous disorder characterized by speckled lentiginous nevus in association with hyperhidrosis, skin dysesthesia, and muscular weakness in an ipsilateral manner. We report a 9-year-old boy with a large speckled lentiginous nevus on his trunk, bilateral upper extremities, and neck associated with hyperhidrosis and nonspecific pain in the distribution of the nevus in addition to prominent upper extremity asymmetry and scoliosis. Similar musculoskeletal abnormalities have been reported in patients with phacomatosis pigmentovascularis and phacomatosis pigmentokeratotica which feature speckled lentiginous nevus; however, this patient demonstrates striking musculoskeletal abnormalities in the absence of coexisting vascular lesions or nevus sebaceous.

Speckled lentiginous nevus syndrome

“…This syndrome can present as part of phacomatosis pigmentokeratotica (PPK) or may appear as an isolated syndrome as in the case described . The patient did not present any sebaceous nevi or vascular lesions and did not show any calcium metabolism alterations such as those noted in Schimmelpenning syndrome or PPK …”

Speckled Lentiginous Nevus Syndrome

“…8,18 Incidence and Prevalence Speckled lentiginous nevus syndrome is a very rare disease, with eight cases (6 men, 2 woman) so far reported in literature. 1,2,8,9,[18][19][20][21][22][23] No racial predilection has been noticed. 2 Almost 80% of speckled lentiginous nevi appear at birth or during early infancy.…”

“…8,23 Like in many neurocutaneous disorders, 46-51 most lesions are benign, but the onset of dysplastic nevi and melanoma have been described, although their exact incidence is unknown. 1,52 Dermatoscopy, a non invasive diagnostic technique widely used in dermatology, 53 may be useful for an early identification of malignancies. 54…”

“…Musculoskeletal abnormalities are represented by muscular weakness, ipsilateral atrophy, and skeletal deformation. 1,35,[55][56][57][58] Neurological dysfunctions include sensory and motors neuropathy such as dysesthesia (hyperalgesia, paresthesia), hyperhidrosis, nerve palsies with thinning of nerve, and spinal muscular atrophy with fasciculations. 2,[20][21][22][59][60][61][62] These dysfunctions are confined to the involved body area with the nevus.…”

“…Speckled lentiginous nevus syndrome is a rare neurocutaneous phenotype, recently described as a new entity, characterized by a specked lentiginous nevus and ipsilateral neurological and musculoskeletal abnormalities, such as skin dysesthesia, hyperhidrosis, and musculoskeletal abnormalities. 1 The nevus is composed of a brown patch, upon which melanocytic papules and macules are superimposed, usually of limited dimensions but sometimes involving large areas of the body. Speckled lentiginous nevus syndrome represents a mosaic phenotype resulting from postzygotic loss of heterozygosity.…”