Download PDF
Journal of Pediatric Neurology 2018; 16(05): 313-318
DOI: 10.1055/s-0038-1667132
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Phacomatosis Pigmentokeratotica

Serena Strano
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
,
Agata Polizzi
2   Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
,
Martino Ruggieri
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
,
Maria Teresa Garozzo
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
,
Flavia La Mendola
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
,
Simona Marino
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
,
Concetta Pirrone
3   Section of Psychology, Department of Educational Sciences, University of Catania, Catania, Italy
,
Antonio Zanghì
4   Department of Medical and Surgical Sciences and Advanced Technology “G.F. Ingrassia,” University of Catania, Catania, Italy
,
Francesco Lacarrubba
5   Dermatology Clinic, University of Catania, Catania, Italy
,
Giuseppe Micali
5   Dermatology Clinic, University of Catania, Catania, Italy
,
Carmelo Schepis
6   Unit of Dermatology, Oasi Research Institute-IRCCS, Troina, Enna, Italy
,
Elena R. Praticò
7   Unit of Pediatrics, Carpi Hospital, Carpi, Italy
,
Andrea D. Praticò
1   Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neurospychiatry, University of Catania, Catania, Italy
8   Maurice Wohl Clinical Neuroscience Institute, King's College London, London, United Kingdom
› Author Affiliations
Further Information

Publication History

18 February 2018

23 May 2018

Publication Date:
20 August 2018 (online)

    Permissions and Reprints

Abstract

In the group of the epidermal nevus syndromes, Happle defined in 1996 a separate entity characterized by the presence of an organoid epidermal nevus, sometimes showing sebaceous differentiation, and a speckled lentiginous nevus of the papular type, occasionally associated with extracutaneous anomalies including neurological, ophthalmological, and skeletal abnormalities. In particular, the syndrome is associated with mental retardation, epilepsy, deafness, hemiatrophy, dysesthesia, and hyperhidrosis, strabismus, lipodermoid of conjunctiva, coloboma and ptosis, and kyphosis, scoliosis, limb asymmetry, and hypertrophy. Rarely, hypertension, vascular abnormalities, atrioventricular block, hypophosphatemic rickets, and pheochromocytoma may occur. The organoid nevus follows the lines of Blaschko whereas the speckled lentiginous nevus is arranged in a checkerboard pattern. For this syndrome, the term “Phacomatosis Pigmentokeratotica” has been coined and, at the present, it is considered a very rare clinical entity, with less than 20 cases reported in the literature. Recent genetic findings have included this syndrome in the group of the mosaic RASopathies, after the discovery of mutations in the HRAS gene occurring in both sebaceous and vascular nevi, but not in nonaffected tissues.

Keywords

epidermal nevi - speckled lentiginous nevus - neurological abnormalities - systemic involvement - limb asymmetry - HRAS gene
 

  • References

  • 1 Mehregan AH, Pinkus H. Life history of organoid nevi. Arch Dermatol 1965; 91: 574-588
    CrossrefPubMedGoogle Scholar
  • 2 Solomon LM, Esterly NB. Epidermal and other congenital organoid nevi. Curr Probl Pediatr 1975; 6 (01) 1-56
    PubMedGoogle Scholar
  • 3 Rogers M. Epidermal nevi and the epidermal nevus syndromes: a review of 233 cases. Pediatr Dermatol 1992; 9 (04) 342-344
    CrossrefPubMedGoogle Scholar
  • 4 Boente MC, Pizzi de Parra N, Larralde de Luna M. , et al. Phacomatosis pigmentokeratotica: another epidermal nevus syndrome and a distinctive type of twin spotting. Eur J Dermatol 2000; 10 (03) 190-194
    PubMedGoogle Scholar
  • 5 Happle R, Rogers M. Epidermal nevi. Adv Dermatol 2002; 18: 175-201
    PubMedGoogle Scholar
  • 6 Happle R. Epidermal nevus syndromes. Semin Dermatol 1995; 14 (02) 111-121
    CrossrefPubMedGoogle Scholar
  • 7 Happle R. How many epidermal nevus syndromes exist? A clinicogenetic classification. J Am Acad Dermatol 1991; 25 (03) 550-556
    CrossrefPubMedGoogle Scholar
  • 8 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
    CrossrefPubMedGoogle Scholar
  • 9 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
    CrossrefPubMedGoogle Scholar
  • 10 Ruggieri M, Praticò AD, Scuderi A, Sorge G, Polizzi A. The multiple faces of artwork diagnoses. Lancet Neurol 2017; 16 (06) 417-418
    CrossrefPubMedGoogle Scholar
  • 11 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
    CrossrefPubMedGoogle Scholar
  • 12 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
    CrossrefPubMedGoogle Scholar
  • 13 Happle R, Hoffmann R, Restano L, Caputo R, Tadini G. Phacomatosis pigmentokeratotica: a melanocytic-epidermal twin nevus syndrome. Am J Med Genet 1996; 65 (04) 363-365
    CrossrefPubMedGoogle Scholar
  • 14 Goldberg LH, Collins SA, Siegel DM. The epidermal nevus syndrome: case report and review. Pediatr Dermatol 1987; 4 (01) 27-33
    CrossrefPubMedGoogle Scholar
  • 15 Stein KM, Shmunes E, Thew M. Neurofibromatosis presenting as the epidermal nevus syndrome. Arch Dermatol 1972; 105 (02) 229-232
    CrossrefPubMedGoogle Scholar
  • 16 Tadini G, Ermacora E, Carminati G. , et al. Unilateral specked lentiginous naevus, contralateral verrucous epidermal naevus, and diffuse ichthyosis-like hyperkeratosis: an unusual example of twin spotting?. Eur J Dermatol 1995; 5: 659-663
    PubMedGoogle Scholar
  • 17 Kopf AW, Bart RS. Combined organoid and melanocytic nevus. J Dermatol Surg Oncol 1980; 6 (01) 28-30
    CrossrefPubMedGoogle Scholar
  • 18 Happle R. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 1993; 129 (11) 1460-1470
    CrossrefPubMedGoogle Scholar
  • 19 Misago N, Narisawa Y, Nishi T, Kohda H. Association of nevus sebaceus with an unusual type of “combined nevus.”. J Cutan Pathol 1994; 21 (01) 76-81
    CrossrefPubMedGoogle Scholar
  • 20 Koopman RJJ. Concept of twin spotting. Am J Med Genet 1999; 85 (04) 355-358
    CrossrefPubMedGoogle Scholar
  • 21 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
    CrossrefPubMedGoogle Scholar
  • 22 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
    CrossrefPubMedGoogle Scholar
  • 23 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
    CrossrefPubMedGoogle Scholar
  • 24 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
    PubMedGoogle Scholar
  • 25 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
    CrossrefPubMedGoogle Scholar
  • 26 Ruggieri M, Iannetti P, Clementi M. , et al. Neurofibromatosis type 1 and infantile spasms. Childs Nerv Syst 2009; 25 (02) 211-216
    CrossrefPubMedGoogle Scholar
  • 27 Ruggieri M. Familial hypomelanosis of ito: implications for genetic counselling. Am J Med Genet 2000; 95 (01) 82-84
    CrossrefPubMedGoogle Scholar
  • 28 Ruggieri M, Magro G, Ruggieri M, Polizzi A. Tumors and hypomelanosis of Ito. Arch Pathol Lab Med 2001; 125 (05) 599-601
    PubMedGoogle Scholar
  • 29 Ruggieri M, Mastrangelo M, Spalice A. , et al. Bilateral (perisylvian and opercular) polymicrogyria and neurofibromatosis type 1. Am J Med Genet 2011; 155: 582-585
    CrossrefPubMedGoogle Scholar
  • 30 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
    CrossrefPubMedGoogle Scholar
  • 31 Ruggieri M, Pavone P, Polizzi A. , et al. Ophthalmological manifestations in segmental neurofibromatosis type 1. Br J Ophthalmol 2004; 88 (11) 1429-1433
    CrossrefPubMedGoogle Scholar
  • 32 Ruggieri M, Polizzi A. Segmental neurofibromatosis. J Neurosurg 2000; 93 (03) 530-532
    PubMedGoogle Scholar
  • 33 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
    CrossrefPubMedGoogle Scholar
  • 34 Ruggieri M, Praticò AD. Mosaic neurocutaneous disorders and their causes. Semin Pediatr Neurol 2015; 22 (04) 207-233
    CrossrefPubMedGoogle Scholar
  • 35 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
    CrossrefPubMedGoogle Scholar
  • 36 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
    CrossrefPubMedGoogle Scholar
  • 37 Martínez-Menchón T, Mahiques Santos L, Vilata Corell JJ, Febrer Bosch I, Fortea Baixauli JM. Phacomatosis pigmentokeratotica: a 20-year follow-up with malignant degeneration of both nevus components. Pediatr Dermatol 2005; 22 (01) 44-47
    CrossrefPubMedGoogle Scholar
  • 38 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
    CrossrefPubMedGoogle Scholar
  • 39 Boente MdelC, Asial RA, Happle R. Phacomatosis pigmentokeratotica: a follow-up report documenting additional cutaneous and extracutaneous anomalies. Pediatr Dermatol 2008; 25 (01) 76-80
    CrossrefPubMedGoogle Scholar
  • 40 Happle R. Loss of heterozygosity in human skin. J Am Acad Dermatol 1999; 41 (2 Pt 1): 143-164
    CrossrefPubMedGoogle Scholar
  • 41 Marden PM, Venters Jr HD. A new neurocutaneous syndrome. Am J Dis Child 1966; 112 (01) 79-81
    PubMedGoogle Scholar
  • 42 Gorlin RJ, Cohen Jr MM, Hennekam RCM. Syndromes of the Head and Neck. 4th ed. Oxford: Oxford University Press; 2001
    Google Scholar
  • 43 Happle R. Gustav Schimmelpenning and the syndrome bearing his name. Dermatology 2004; 209 (02) 84-87
    CrossrefPubMedGoogle Scholar
  • 44 Aizawa K, Nakamura T, Ohyama Y. , et al. Renal artery stenosis associated with epidermal nevus syndrome. Nephron 2000; 84 (01) 67-70
    CrossrefPubMedGoogle Scholar
  • 45 Ratzenhofer E, Hohlbrugger H, Gebhart W, Lubec G. Linearer epidermaler Naevus mit multiplen Mißbildungen (“epidermal nevus syndrome” Solomon). Klin Padiatr 1981; 117: 117-119
    Article in Thieme ConnectPubMedGoogle Scholar
  • 46 Ruggieri M, Pavone V, Polizzi A. , et al. Tuberculosis of the ankle in childhood: clinical, roentgenographic and computed tomography findings. Clin Pediatr (Phila) 1997; 36 (09) 529-534
    CrossrefPubMedGoogle Scholar
  • 47 Brancati F, Travaglini L, Zablocka D. , et al; International JSRD Study Group. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet 2008; 74 (02) 164-170
    CrossrefPubMedGoogle Scholar
  • 48 Salpietro V, Polizzi A, Bertè LF. , et al. Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis. Neuroendocrinol Lett 2012; 33 (06) 569-573
    PubMedGoogle Scholar
  • 49 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
    CrossrefPubMedGoogle Scholar
  • 50 Okada E, Tamura A, Ishikawa O. Phacomatosis pigmentokeratotica complicated with juvenile onset hypertension. Acta Derm Venereol 2004; 84 (05) 397-398
    CrossrefPubMedGoogle Scholar
  • 51 Vidaurri-de la Cruz H, Happle R. Two distinct types of speckled lentiginous nevi characterized by macular versus papular speckles. Dermatology 2006; 212 (01) 53-58
    PubMedGoogle Scholar
  • 52 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
    CrossrefPubMedGoogle Scholar
  • 53 Happle R. Speckled lentiginous nevus syndrome: delineation of a new distinct neurocutaneous phenotype. Eur J Dermatol 2002; 12 (02) 133-135
    PubMedGoogle Scholar
  • 54 Tadini G, Restano L, Gonzáles-Pérez R. , et al. Phacomatosis pigmentokeratotica: report of new cases and further delineation of the syndrome. Arch Dermatol 1998; 134 (03) 333-337
    CrossrefPubMedGoogle Scholar
  • 55 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
    CrossrefPubMedGoogle Scholar
  • 56 Polizzi A, Coghill S, McShane MA, Squier W. Acute ataxia complicating Langerhans cell histiocytosis. Arch Dis Child 2002; 86 (02) 130-131
    CrossrefPubMedGoogle Scholar
  • 57 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
    CrossrefPubMedGoogle Scholar
  • 58 Polizzi A, Pavone P, Iannetti P, Manfré L, Ruggieri M. Septo-optic dysplasia complex: a heterogeneous malformation syndrome. Pediatr Neurol 2006; 34 (01) 66-71
    CrossrefPubMedGoogle Scholar
  • 59 Trifiletti RR, Incorpora G, Polizzi A, Cocuzza MD, Bolan EA, Parano E. Aicardi syndrome with multiple tumors: a case report with literature review. Brain Dev 1995; 17 (04) 283-285
    CrossrefPubMedGoogle Scholar
  • 60 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
    CrossrefPubMedGoogle Scholar
  • 61 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
    CrossrefPubMedGoogle Scholar
  • 62 Lionetti E, Francavilla R, Maiuri L. , et al. Headache in pediatric patients with celiac disease and its prevalence as a diagnostic clue. J Pediatr Gastroenterol Nutr 2009; 49 (02) 202-207
    CrossrefPubMedGoogle Scholar
  • 63 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
    CrossrefPubMedGoogle Scholar
  • 64 Ruggieri M, Pavone V, Polizzi A. , et al. Unusual form of recurrent multinucleated 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: 67-72
    CrossrefPubMedGoogle Scholar
  • 65 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
    CrossrefPubMedGoogle Scholar
  • 66 Pavone P, Nigro F, Falsaperla R. , et al. Hemihydranencephaly: living with half brain dysfunction. Ital J Pediatr 2013; 39: 3
    CrossrefPubMedGoogle Scholar
  • 67 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
    PubMedGoogle Scholar
  • 68 Hermes B, Cremer B, Happle R, Henz BM. Phacomatosis pigmentokeratotica: a patient with the rare melanocytic-epidermal twin nevus syndrome. Dermatology 1997; 194 (01) 77-79
    CrossrefPubMedGoogle Scholar
  • 69 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
    CrossrefPubMedGoogle Scholar
  • 70 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
    CrossrefPubMedGoogle Scholar
  • 71 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
    CrossrefPubMedGoogle Scholar
  • 72 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
    CrossrefPubMedGoogle Scholar
  • 73 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
    CrossrefPubMedGoogle Scholar
  • 74 Ruggieri M, Packer RJ. Why do benign astrocytomas become malignant in NF1?. Neurology 2001; 56 (07) 827-829
    CrossrefPubMedGoogle Scholar
  • 75 Ruggieri M, Polizzi A. Choroidal abnormalities and mental retardation in neurofibromatosis type 1. Lancet 2001; 357 (9252): 311-312
    PubMedGoogle Scholar
  • 76 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
    CrossrefPubMedGoogle Scholar
  • 77 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
    CrossrefPubMedGoogle Scholar
  • 78 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
    PubMedGoogle Scholar
  • 79 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
    CrossrefPubMedGoogle Scholar
  • 80 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
    CrossrefPubMedGoogle Scholar
  • 81 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
    CrossrefPubMedGoogle Scholar
  • 82 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
    Article in Thieme ConnectPubMedGoogle Scholar
  • 83 Ruggieri M, McShane MA. Parental view of epilepsy in Angelman syndrome: a questionnaire study. Arch Dis Child 1998; 79 (05) 423-426
    CrossrefPubMedGoogle Scholar
  • 84 Graf U, Frei H, Kägi A, Katz AJ, Würgler FE. Thirty compounds tested in the Drosophila wing spot test. Mutat Res 1989; 222 (04) 359-373
    CrossrefPubMedGoogle Scholar
  • 85 Harrison BJ, Carpenter R. Somatic crossing-over in Antirrhinum majus. . Heredity 1977; 38: 169-189
    CrossrefPubMedGoogle Scholar
  • 86 Patterson JT. The production of mutations in somatic cells of Drosophila melanogaster by means of x-rays. J Exp Zool 1929; 53: 327-372
    CrossrefPubMedGoogle Scholar
  • 87 Vig BK, Paddock EF. Studies on the expression of somatic crossing over in Glycine max L. Theor Appl Genet 1970; 40 (07) 316-321
    CrossrefPubMedGoogle Scholar
  • 88 Happle R, König A. Dominant traits may give rise to paired patches of either excessive or absent involvement. Am J Med Genet 1999; 84 (02) 176-177
    CrossrefPubMedGoogle Scholar
  • 89 Happle R, Steijlen PM. Phacomatosis pigmentovascularis gedeutet als ein Phänomen der Zwillingsflecken. Hautarzt 1989; 40 (11) 721-724
    PubMedGoogle Scholar
  • 90 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
    Article in Thieme ConnectPubMedGoogle Scholar
  • 91 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
    Article in Thieme ConnectPubMedGoogle Scholar
  • 92 Happle R. Dohi Memorial Lecture. New aspects of cutaneous mosaicism. J Dermatol 2002; 29 (11) 681-692
    CrossrefPubMedGoogle Scholar
  • 93 Schimmelpenning GW. Clinical contribution to symptomatology of phacomatosis [Article in German]. Fortschr Geb Rontgenstr Nuklearmed 1957; 87 (06) 716-720
    Article in Thieme ConnectPubMedGoogle Scholar
  • 94 Feuerstein RC, Mims LC. Linear nevus sebaceus with convulsions and mental retardation. Am J Dis Child 1962; 104: 675-679
    PubMedGoogle Scholar
  • 95 Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987; 16 (04) 899-906
    CrossrefPubMedGoogle Scholar
  • 96 Groesser L, Herschberger E, Sagrera A. , et al. Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell. J Invest Dermatol 2013; 133 (08) 1998-2003
    CrossrefPubMedGoogle Scholar
  • 97 Happle R. Phacomatosis pigmentokeratotica is a “pseudodidymosis”. J Invest Dermatol 2013; 133 (08) 1923-1925
    CrossrefPubMedGoogle Scholar
  • 98 Aschinberg LC, Solomon LM, Zeis PM, Justice P, Rosenthal IM. Vitamin D-resistant rickets associated with epidermal nevus syndrome: demonstration of a phosphaturic substance in the dermal lesions. J Pediatr 1977; 91 (01) 56-60
    CrossrefPubMedGoogle Scholar
  • 99 Goldblum JR, Headington JT. Hypophosphatemic vitamin D-resistant rickets and multiple spindle and epithelioid nevi associated with linear nevus sebaceus syndrome. J Am Acad Dermatol 1993; 29 (01) 109-111
    CrossrefPubMedGoogle Scholar
  • 100 Sugarman GI, Reed WB. Two unusual neurocutaneous disorders with facial cutaneous signs. Arch Neurol 1969; 21 (03) 242-247
    CrossrefPubMedGoogle Scholar
  • 101 Zutt M, Strutz F, Happle R. , et al. Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. Dermatology 2003; 207 (01) 72-76
    CrossrefPubMedGoogle Scholar
  • 102 La Rosa C, Baroncelli GI, Pavone P, Praticò AD, Di Cataldo A, Caruso-Nicoletti M. Ganglioneuroblastoma-associated vitamin D deficiency rickets. J Pediatr Hematol Oncol 2009; 31 (07) 502-504
    CrossrefPubMedGoogle Scholar
  • 103 Stosiek N, Hornstein OP, Hiller D, Peters KP. Extensive linear epidermal nevus associated with hemangiomas of bones and vitamin-D-resistant rickets. Dermatology 1994; 189 (03) 278-282
    CrossrefPubMedGoogle Scholar
  • 104 de Morais OO, Costa LO, Shinzato DH, Wiziack NC, Hans-Filho G. Phacomatosis pigmentokeratotica–a patient with hypophosphatemic rickets. Skinmed 2013; 11 (02) 125-128
    PubMedGoogle Scholar
  • 105 Effendy I, Happle R. Linear arrangement of multiple congenital melanocytic nevi. J Am Acad Dermatol 1992; 27 (5 Pt 2): 853-854
    CrossrefPubMedGoogle Scholar
  • 106 Polat M, Yalçin B, Ustün H, Caliskan D, Alli N. Phacomatosis pigmentokeratotica without extracutaneous abnormalities. Eur J Dermatol 2008; 18 (03) 363-364
    PubMedGoogle Scholar
  • 107 Spalice A, Ruggieri M, Grosso S. , et al. Dysembryoplastic neuroepithelial tumors: a prospective clinicopathologic and outcome study of 13 children. Pediatr Neurol 2010; 43 (06) 395-402
    CrossrefPubMedGoogle Scholar
  • 108 Sorge G, Ruggieri M, Polizzi A, Scuderi A, Di Pietro M. SHORT syndrome: a new case with probable autosomal dominant inheritance. Am J Med Genet 1996; 61 (02) 178-181
    CrossrefPubMedGoogle Scholar
  • 109 Jacobelli S, Leclerc-Mercier S, Salomon R. , et al. Phacomatosis pigmentokeratotica with nephroblastoma and juvenile hypertension. Acta Derm Venereol 2010; 90 (03) 279-282
    CrossrefPubMedGoogle Scholar
  • 110 Fan YM, Liu Z, Zhu CY, Li W, Li SF. An atypical variant of phacomatosis pigmentokeratotica: verrucous epidermal nevus, speckled lentiginous nevus, and Spitz nevus associated with scoliosis. Int J Dermatol 2014; 53 (05) 619-621 Principio del formulario
    CrossrefPubMedGoogle Scholar