Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms

Ruggieri, Martino; Praticò, Andrea D.; Maiolino, Luigi; Cocuzza, Salvatore; Caltabiano, Rosario; Polizzi, Agata

doi:10.1007/s00381-016-3226-8

Cited by 46 publications

(52 citation statements)

References 57 publications

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“…Differently from other neurocutaneous disorders, [27][28][29][30][31] CTD dysplasia has been recently identified and described by Manuel Gomez in 1979 in a girl. He postulated that the patient had a cerebellotrigeminal and focal dermal dysplasia due to a developmental arrest of the ectoderm, which gives rise to the alar plate of the rhombencephalon, the overlying epidermis, the motor nucleus of the fifth cranial nerve, and the trigeminal placodes.…”

Section: Historical Background and Eponymsmentioning

confidence: 99%

Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

et al. 2018

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Cerebellotrigeminal dermal (CTD) dysplasia is a rare neurocutaneous disorder characterized by a triad of symptoms: bilateral parieto-occipital alopecia, facial anesthesia in the trigeminal area, and rhombencephalosynapsis (RES), confirmed by cranial magnetic resonance imaging. CTD dysplasia is also known as Gómez-López-Hernández syndrome. So far, only 35 cases have been described with varying symptomatology. The etiology remains unknown. Either spontaneous dominant mutations or de novo chromosomal rearrangements have been proposed as possible explanations. In addition to its clinical triad of RES, parietal alopecia, and trigeminal anesthesia, CTD dysplasia is associated with a wide range of phenotypic and neurodevelopmental abnormalities.Treatment is symptomatic and includes physical rehabilitation, special education, dental care, and ocular protection against self-induced corneal trauma that causes ulcers and, later, corneal opacification. The prognosis is correlated to the mental development, motor handicap, corneal–facial anesthesia, and visual problems. Follow-up on a large number of patients with CTD dysplasia has never been reported and experience is limited to few cases to date. High degree of suspicion in a child presenting with characteristic alopecia and RES has a great importance in diagnosis of this syndrome.

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Section: Historical Background and Eponymsmentioning

confidence: 99%

Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

et al. 2018

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“…Different from other neurocutaneous phenotypes, [39][40][41][42][43][44][45][46][47][48][49][50][51][52][53] the first description of the disease was published only 20 years ago. In 1997, Happle et al coined the term "cutis tricolor" for the unusual combination of three degrees of skin pigmentation in close proximity to each other, which occurred in a 17year-old boy presenting congenital hyper-and hypopigmented macules confined to circumscribed body segments on a background of normal intermediate skin complexion in association with multiple birth defects.…”

Section: Historical Background and Eponymsmentioning

confidence: 99%

Cutis Tricolor

et al. 2018

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Cutis tricolor is a skin abnormality consisting in a combination of congenital hyper- and hypopigmented skin lesions (in the form of paired macules, patches, or streaks) in close proximity to each other in a background of normal skin. It is currently regarded as a twin-spotting (mosaic) phenomenon. This phenomenon has been reported so far as a purely cutaneous trait, as a part of a complex malformation phenotype (Ruggieri–Happle syndrome), which includes distinct facial features, cataract, skull and vertebral defects, long bones dysplasia, corpus callosum, cerebellar and white matter anomalies, cavum vergae and holoprosencephaly, and other systemic abnormalities. Cutis tricolor has been also reported as a distinct type with multiple, disseminated smaller skin macules (cutis tricolor parvimaculata) or in association with other skin disturbances (e.g., phacomatosis achromico-melano-marmorata) or in the context of other neurocutaneous phenotypes (e.g., ataxia-telangiectasia and phacomatosis pigmentovascularis) or as a sign of complex malformation phenotypes (e.g., microcephaly and dwarfism). More than 20 studies reporting 40 cases are present in the literature with pure cutaneous or syndromic cutis tricolor phenomena and are analyzed in the present study, confirming and expanding the overall phenotype of cutis tricolor. In particular, (1) the skin abnormalities of the cutis tricolor do not evolve over time; (2) there is a typical facial phenotype with long, elongated face, thick and brushy eyebrows, hypertelorism, deep nasal bridge with large bulbous nose, and anteverted nostrils; (3) the skeletal defects are mild-to-moderate and do not progress or cause relevant orthopedic complications; (4) the neurological/behavioral phenotype does not progress and the paroxysmal events (if present) tend to decrease over time; (5) only three patients developed early onset (treatable) cataracts. Different pathologic hypotheses have been postulated, including, early or late postzygotic mutations involving the same gene loci (in the context of the so-called dydymotic theory): such mechanisms can explain the overall skin, bone, lens, and nervous system phenomena of migration of different streaks of clones in the different tissues.

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“…Unlike the other neurocutaneous syndromes, [3][4][5][6][7] the medical history of the disease is very recent, since it has been noticed only in 2002. 8 Typically, speckled lentiginous nevus occurs without extracutaneous findings; however, abnormalities have been reported in syndromes such as phacomatosis pigmentovascularis and phacomatosis pigmentokeratotica.…”

Section: Historical Background and Eponymsmentioning

confidence: 99%

Speckled Lentiginous Nevus Syndrome

et al. 2018

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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.

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Early history of neurofibromatosis type 2 and related forms: earliest descriptions of acoustic neuromas, medical curiosities, misconceptions, landmarks and the pioneers behind the eponyms

Cited by 46 publications

References 57 publications

Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

Cerebellotrigeminal Dermal Dysplasia (Gómez-López-Hernández Syndrome)

Cutis Tricolor

Speckled Lentiginous Nevus Syndrome

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