Speckled Lentiginous Nevus Syndrome

Simona Marino; Valeria Venti; Flavia La Mendola; Andrea D. Praticò; Maria Teresa Garozzo; Agata Polizzi; Concetta Pirrone; Francesco Lacarrubba; Giuseppe Micali; Enrica Quattrocchi; Carmelo Schepis; Antonio Zanghì; Elena R. Praticò; Ignacio Pascual-Castroviejo; Martino Ruggieri

doi:10.1055/s-0038-1667110

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2018; 16(05): 347-351
DOI: 10.1055/s-0038-1667110

Review Article

Georg Thieme Verlag KG Stuttgart · New York

Speckled Lentiginous Nevus Syndrome

Simona Marino^*

¹Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

,

Valeria Venti^*

¹Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

,

Flavia La Mendola

¹Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

,

Andrea D. Praticò

¹Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

²Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom

,

Maria Teresa Garozzo

¹Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

,

Agata Polizzi

³National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy

,

Concetta Pirrone

⁴Section of Psychology, Department of Educational Sciences University of Catania, Catania, Italy

,

Francesco Lacarrubba

⁵Dermatology Clinic, University of Catania, Catania, Italy

,

Giuseppe Micali

⁵Dermatology Clinic, University of Catania, Catania, Italy

,

Enrica Quattrocchi

⁵Dermatology Clinic, University of Catania, Catania, Italy

,

Carmelo Schepis

⁶Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy

,

Antonio Zanghì

⁷Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania Italy

,

Elena R. Praticò

⁸Unit of Pediatrics, Carpi Hospital, Carpi, Italy

,

Ignacio Pascual-Castroviejo

⁹Servicio de Neurología, Hospital Universitario La Paz, Madrid, España

,

Martino Ruggieri

¹Unit of Rare Diseases of the Central Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Catania, Italy

› Author Affiliations

Abstract

Speckled lentiginous nevus syndrome is a rare neurocutaneous phenotype, characterized by a specked lentiginous nevus, appearing as a light brown macule superimposed by multiple melanocytic nevi in the form of macules or papules with uneven distribution, associated with ipsilateral neurological and musculoskeletal abnormalities (i.e., dysesthesia, hyperhidrosis, and musculoskeletal abnormalities) occur. It represents a mosaic phenotype disorder resulting from postzygotic loss of heterozygosity, due to a localized defect in neural crest melanoblasts that originate certain areas of the skin and some ipsilateral neurological and musculoskeletal cells. Environmental and genetic factors may also play a role, but it has not been clarified how these factors behave in this syndrome.

Keywords

speckled lentiginous nevus - neurocutaneous disorder - dysesthesia - hyperhidrosis - loss of heterozygosity

Full Text

References

References
1 Ramolia P, Treadwell P, Haggstrom A. Speckled lentiginous nevus syndrome associated with musculoskeletal abnormalities. Pediatr Dermatol 2009; 26 (03) 298-301
2 Mendiratta V, Jabeen M, Barara M, Varshney M. Speckled lentiginous nevus syndrome with median nerve paresis: a rare syndrome with a new association. Indian Dermatol Online J 2013; 4 (03) 234-235
3 Ruggieri M, Polizzi A. From Aldrovandi's “Homuncio” (1592) to Buffon's girl (1749) and the “Wart Man” of Tilesius (1793): antique illustrations of mosaicism in neurofibromatosis?. J Med Genet 2003; 40 (03) 227-232
4 Ruggieri M, Praticò AD, Caltabiano R, Polizzi A. Rediagnosing one of Smith's patients (John McCann) with “neuromas tumours” (1849). Neurol Sci 2017; 38 (03) 493-499
5 Ruggieri M, Praticò AD, Scuderi A, Sorge G, Polizzi A. The multiple faces of artwork diagnoses. Lancet Neurol 2017; 16 (06) 417-418
6 Ruggieri M, Praticò AD, Caltabiano R, Polizzi A. Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: First descriptions, medical curiosities, misconceptions, landmarks, and the persons behind the syndromes. Am J Med Genet A 2018; 176 (03) 515-550
7 Ruggieri M, Praticò AD, Serra A. , et al. Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms. Childs Nerv Syst 2017; 33 (04) 549-560
8 Happle R. Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol 2002; 12 (02) 133-135
9 Boncoraglio GB, Parati EA, Ciceri E, Rinaldi R, Capella GL. Intracranial cavernoma and speckled lentiginous nevus: extending the spectrum of phakomatoses?. Neurol Sci 2010; 31 (06) 841-844
10 Papetti L, Tarani L, Nicita F. , et al. Macrocephaly-capillary malformation syndrome: description of a case and review of clinical diagnostic criteria. Brain Dev 2012; 34 (02) 143-147
11 Ruggieri M, Milone P, Pavone P. , et al. Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients. Am J Med Genet A 2012; 158A (11) 2870-2880
12 Ruggieri M, Polizzi A, Strano S. , et al. Mixed vascular nevus syndrome: a report of four new cases and a literature review. Quant Imaging Med Surg 2016; 6 (05) 515-524
13 Barbagallo M, Ruggieri M, Incorpora G. , et al. Infantile spasms in the setting of Sturge-Weber syndrome. Childs Nerv Syst 2009; 25 (01) 111-118
14 Ruggieri M, D'Arrigo G, Abbate M, Distefano A, Upadhyaya M. Multiple coronary artery aneurysms in a child with neurofibromatosis type 1. Eur J Pediatr 2000; 159 (07) 477-480
15 Ruggieri M, Packer RJ. Why do benign astrocytomas become malignant in NF1?. Neurology 2001; 56 (07) 827-829
16 Ruggieri M, Polizzi A. Choroidal abnormalities and mental retardation in neurofibromatosis type 1. Lancet 2001; 357 (9252): 311-312
17 Ruggieri M, Pavone V, Tiné A. , et al. Ossifying fibroma of the skull in a patient with neurofibromatosis type 1. Case report. J Neurosurg 1996; 85 (05) 941-944
18 Vidauuri-de La Cruz H, Happle R. Two distinct types of speckled lentiginous nevi characterised by macular versus popular speckles. Dermatology 2006; 212 (01) 53-58
19 Brufau C, Moran M, Armijo M. Nevus on nevus. Apropos of 7 case reports, 3 of them associated with other dysplasias, and 1 with an invasive malignant melanoma [Article in French. [Article in French] Ann Dermatol Venereol 1986; 113 (05) 409-418
20 Hofmann UB, Ogilvie P, Müllges W, Bröcker EB, Hamm H. Congenital unilateral speckled lentiginous blue nevi with asymmetric spinal muscular atrophy. J Am Acad Dermatol 1998; 39 (2 Pt 2): 326-329
21 Holder JE, Graham-Brown RA, Camp RD. Partial unilateral lentiginosis associated with blue naevi. Br J Dermatol 1994; 130 (03) 390-393
22 Piqué E, Aguilar A, Fariña MC, Gallego MA, Escalonilla P, Requena L. Partial unilateral lentiginosis: report of seven cases and review of the literature. Clin Exp Dermatol 1995; 20 (04) 319-322
23 Vente C, Neumann C, Bertsch H, Rupprecht R, Happle R. Speckled lentiginous nevus syndrome: report of a further case. Dermatology 2004; 209 (03) 228-229
24 Ruggieri M, Gabriele AL, Polizzi A. , et al. Natural history of neurofibromatosis type 2 with onset before the age of 1 year. Neurogenetics 2013; 14 (02) 89-98
25 Ruggieri M, Polizzi A, Spalice A. , et al. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features. Clin Genet 2015; 87 (05) 401-410
26 Ruggieri M, Praticò AD, Evans DGE. Diagnosis, management and new therapeutic options in childhood neurofibromatosis type 2 and related disorders. Semin Pediatr Neurol 2015; 22 (04) 240-258
27 Ruggieri M, Praticò AD, Serra A. , et al. Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies. Acta Otorhinolaryngol Ital 2016; 36 (05) 345-367
28 Caltabiano R, Magro G, Polizzi A. , et al. A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. Childs Nerv Syst 2017; 33 (06) 933-940
29 Ruggieri M, Iannetti P, Clementi M. , et al. Neurofibromatosis type 1 and infantile spasms. Childs Nerv Syst 2009; 25 (02) 211-216
30 Ruggieri M, Pavone V, Polizzi A. , et al. Unusual form of recurrent giant cell granuloma of the mandible and lower extremities in a patient with neurofibromatosis type 1. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1999; 87 (01) 67-72
31 Ruggieri M, Huson SM. The neurofibromatoses. An overview. Ital J Neurol Sci 1999; 20 (02) 89-108
32 Ruggieri M. Mosaic (segmental) neurofibromatosis type 1 (NF1) and type 2 (NF2): no longer neurofibromatosis type 5 (NF5). Am J Med Genet 2001; 101 (02) 178-180
33 Ruggieri M, Praticò AD. Mosaic neurocutaneous disorders and their causes. Semin Pediatr Neurol 2015; 22 (04) 207-233
34 Ruggieri M, Pavone V, De Luca D, Franzò A, Tiné A, Pavone L. Congenital bone malformations in patients with neurofibromatosis type 1 (Nf1). J Pediatr Orthop 1999; 19 (03) 301-305
35 Ruggieri M. Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype. Eur J Pediatr 2000; 159 (10) 745-749
36 Ruggieri M, Pavone P, Polizzi A. , et al. Ophthalmological manifestations in segmental neurofibromatosis type 1. Br J Ophthalmol 2004; 88 (11) 1429-1433
37 Ruggieri M, Polizzi A. Segmental neurofibromatosis. J Neurosurg 2000; 93 (03) 530-532
38 Ruggieri M. Familial hypomelanosis of ito: implications for genetic counselling. Am J Med Genet 2000; 95 (01) 82-84
39 Ruggieri M, Magro G, Ruggieri M, Polizzi A. Tumors and hypomelanosis of Ito. Arch Pathol Lab Med 2001; 125 (05) 599-601
40 Ruggieri M, Mastrangelo M, Spalice A. , et al. Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1. Am J Med Genet A 2011; 155A (03) 582-585
41 Pavone P, Praticò AD, Ruggieri M, Falsaperla R. Hypomelanosis of Ito: a round on the frequency and type of epileptic complications. Neurol Sci 2015; 36 (07) 1173-1180
42 Ruggieri M, Tigano G, Mazzone D, Tiné A, Pavone L. Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens). Neurology 1996; 46 (02) 485-492
43 Ruggieri M, Rizzo R, Pavone P, Baieli S, Sorge G, Happle R. Temporal triangular alopecia in association with mental retardation and epilepsy in a mother and daughter. Arch Dermatol 2000; 136 (03) 426-427
44 Pavone P, Praticò AD, Gentile G. , et al. A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features. Eur J Med Genet 2016; 59 (05) 283-289
45 Polizzi A, Pavone P, Ciancio E, La Rosa C, Sorge G, Ruggieri M. Hypertrichosis cubiti (hairy elbow syndrome): a clue to a malformation syndrome. J Pediatr Endocrinol Metab 2005; 18 (10) 1019-1025
46 Ruggieri M, Iannetti P, Pavone L. Delineation of a newly recognized neurocutaneous malformation syndrome with “cutis tricolor”. Am J Med Genet A 2003; 120A (01) 110-116
47 Ruggieri M, Iannetti F, Polizzi A. , et al. Cataracts in the setting of a newly recognised neurocutaneous malformation syndrome with cutis tricolor. Br J Ophthalmol 2009; 93: 175-176
48 Ruggieri M, Roggini M, Kennerknecht I, Polizzi A, Distefano A, Pavone V. Spectrum of skeletal abnormalities in a complex malformation syndrome with “cutis tricolor” (Ruggieri-Happle syndrome). Acta Paediatr 2011; 100 (01) 121-127
49 Nicita F, Spalice A, Roggini M. , et al. Complex malformation (Ruggieri-Happle) phenotype with “cutis tricolor” in a 10-year-old girl. Brain Dev 2012; 34 (10) 869-872
50 Ruggieri M, Polizzi A, Schepis C. , et al. Cutis tricolor: a literature review and report of five new cases. Quant Imaging Med Surg 2016; 6 (05) 525-534
51 Lionetti E, Pavone P, Kennerknecht I. , et al. Neurological manifestations in individuals with pure cutaneous or syndromic (Ruggieri-Happle syndrome) phenotypes with “cutis tricolor”: a study of 14 cases. Neuropediatrics 2010; 41 (02) 60-65
52 Lazova R. Speckled Lentiginous Nevus. Available at. Available at; http://emedicine.medscape.com/article/1061990-overview#a6 . Accessed October 2, 2017
53 Micali G, Verzì AE, Lacarrubba F. Alternative Uses of Dermatoscopy In Daily Clinical Practice: An Update. J Am Acad Dermatol pii: S0190-9622(18)32143-1 . doi: 10.1016/j.jaad.2018.06.021
54 Haenssle HA, Kaune KM, Buhl T. , et al. Large speckled lentiginous naevus superimposed with Spitz naevi: sequential digital dermoscopy may lead to unnecessary excisions triggered by dynamic changes. Clin Exp Dermatol 2009; 34 (02) 212-215
55 Vincent A, Jacobson L, Plested P. , et al. Antibodies affecting ion channel function in acquired neuromyotonia, in seropositive and seronegative myasthenia gravis, and in antibody-mediated arthrogryposis multiplex congenita. Ann N Y Acad Sci 1998; 841 (841) 482-496
56 O'Connor KC, Lopez-Amaya C, Gagne D. , et al. Anti-myelin antibodies modulate clinical expression of childhood multiple sclerosis. J Neuroimmunol 2010; 223 (1-2): 92-99
57 Polizzi A, Coghill S, McShane MA, Squier W. Acute ataxia complicating Langerhans cell histiocytosis. Arch Dis Child 2002; 86 (02) 130-131
58 Polizzi A, Pavone P, Parano E, Incorpora G, Ruggieri M. Lack of progression of brain atrophy in Aicardi-Goutières syndrome. Pediatr Neurol 2001; 24 (04) 300-302
59 Pavone P, Pettoello-Mantovano M, Le Pira A. , et al. Acute disseminated encephalomyelitis: a long-term prospective study and meta-analysis. Neuropediatrics 2010; 41 (06) 246-255
60 Ruggieri M, Polizzi A, Pavone L, Musumeci S. Thalamic syndrome in children with measles infection and selective, reversible thalamic involvement. Pediatrics 1998; 101 (1 Pt 1): 112-119
61 Salpietro V, Polizzi A, Di Rosa G. , et al. Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications. Int J Endocrinol 2014; 2014: 282489
62 Salpietro V, Mankad K, Kinali M. , et al. Pediatric idiopathic intracranial hypertension and the underlying endocrine-metabolic dysfunction: a pilot study. J Pediatr Endocrinol Metab 2014; 27 (1–2): 107-115
63 Bolognia JL. Fatal melanoma arising in a zosteriform speckled lentiginous nevus. Arch Dermatol 1991; 127 (08) 1240-1241
64 Kurban RS, Preffer FI, Sober AJ, Mihm Jr MC, Barnhill RL. Occurrence of melanoma in “dysplastic” nevus spilus: report of case and analysis by flow cytometry. J Cutan Pathol 1992; 19 (05) 423-428
65 Pavone P, Nigro F, Falsaperla R. , et al. Hemihydranencephaly: living with half brain dysfunction. Ital J Pediatr 2013; 39: 3
66 Pavone P, Praticò AD, Vitaliti G. , et al. Hydranencephaly: cerebral spinal fluid instead of cerebral mantles. Ital J Pediatr 2014; 40: 79
67 Distefano G, Praticò AD. Actualities on molecular pathogenesis and repairing processes of cerebral damage in perinatal hypoxic-ischemic encephalopathy. Ital J Pediatr 2010; 36: 63
68 Pavone P, Praticò AD, Rizzo R. , et al. A clinical review on megalencephaly: a large brain as a possible sign of cerebral impairment. Medicine (Baltimore) 2017; 96 (26) e6814
69 Pavone P, Falsaperla R, Ruggieri M. , et al. Clinical course of NMDAr encephalitis and effectiveness of cyclophosphamide treatment. J Pediatr Neurol 2017; 15: 84-89
70 Praticò AD, Falsaperla R, Ruggieri M, Corsello G, Pavone P. Prognostic challenges of SCN1A genetic mutations: report on two children with mild features. J Pediatr Neurol 2016; 14: 82-88
71 Ruggieri M, Huson SM. The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology 2001; 56 (11) 1433-1443
72 Happle R. Loss of heterozygosity in human skin. J Am Acad Dermatol 1999; 41 (2 Pt 1): 143-164
73 Lazova R. Speckled lentiginous nevus. Available at: http://www.emedicine.com/derm/topic902/htm . Accessed October 2, 2017