Unilateral Skin Lesions, Cataracts, Optic Glioma and Retardation – a Variant of the Epidermal Nevus Syndrome?

Burck, Uta; Held, Karsten R.

doi:10.1159/000249943

Cited by 11 publications

(15 citation statements)

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“…A rather characteristic clinical feature of the skin lesions, being present in early infancy, appears to be linear hypopigmentation, as noted by Burck and Held [10] and in our case (table 1). …”

Section: Discussionsupporting

confidence: 84%

“…The cerebral anomalies so far known to be associated with this phenotype include mental deficiency [10, 14], an enlarged third ventricle [12], ipsilateral optic glioma [12] and meningioma of the psammomatous type [12]. In the present case, a medulloblastoma was found to originate from the ipsilateral vermis region; thus, rendering a syndromic association very likely.…”

Section: Discussionmentioning

confidence: 72%

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Happle-Tinschert Syndrome

Itin

2008

Dermatology

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Recently, Happle and Tinschert [Acta Derm Venereol 2008;88:382–387] described the case of a multisystem birth defect with segmentally arranged basaloid follicular hamartomas associated with extracutaneous defects in the form of short leg, polydactyly and hypoplastic teeth. The authors presented a comprehensive overview of 8 similar cases reported under various designations, and provided evidence that this syndrome includes various additional defects of the bones, teeth and brain. Here, a further typical case is reported, and it is emphasized that this phenotype should no longer be categorized as ‘basal cell nevus syndrome’, and thus be confused with the nevoid basal cell carcinoma syndrome of Gorlin [Cancer 1965;18:89–104]. A 7-year-old boy had multiple whitish and some scattered brownish basaloid follicular hamartomas involving the right side of his body in a systematized pattern following the lines of Blaschko. These lesions had been present since birth. They were hairless and conspicuously hypopigmented. In addition, enamel defects and mild webbing of the first and second right toes were noted. At the age of 5 years, the boy developed a medulloblastoma that originated from the ipsilateral paramedian vermis region. The tumor was surgically removed, and subsequently radiotherapy and chemotherapy were applied. Analysis of blood DNA did not reveal any Patched mutation. The molecular basis of the disorder remains to be elucidated. From this case and from 9 similar cases reported in the literature, the spectrum of a distinct phenotype is delineated, and the eponymic designation Happle-Tinschert syndrome is proposed.

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Section: Discussionsupporting

confidence: 84%

Section: Discussionmentioning

confidence: 72%

Happle-Tinschert Syndrome

Itin

2008

Dermatology

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“…In the case reported by Itin (2) in 2009 a 7‐year‐old boy showed congenital linear hypopigmented areas involving the right side of the trunk and right arm, which demonstrated to be linear BFH. Burck in 1982 (12) reported the case of a girl who presented since birth linear bands of hypopigmented atrophoderma disposed similarly to those shown by our patient.…”

Section: Discussionsupporting

confidence: 76%

Congenital Systematized Basaloid Follicular Hamartoma with Microphthalmia and Hemimegalencephaly

Boccaletti

Accorsi

Pinelli³

et al. 2010

Pediatric Dermatology

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The lines of Blaschko are a cutaneous pattern of mosaicism present in a variety of skin disorders. Developmental abnormalities affecting other tissues derived from the embryonic ectoderm and mesoderm are sometimes associated. Here, we describe a 5-year-old boy with basaloid follicular hamartoma affecting the left side of the body in linear multiple bands, following Blaschko lines. Lesions were predominantly hypopigmented macules and streaks, but among these, we could observe brownish atrophic patches and brown papules. Furthermore, ipsilateral hemimegaloencephaly and microphthalmia were present. These findings suggest a neurocutaneous condition recently described by Happle and Tinschert. Its nosologic classification will be discussed.

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“…Under the title 'Unilateral skin lesions, cataracts, optic glioma and retardation -a variant of the epidermal nevus syndrome' we reported in this journal [Burck et al, 1982] on a female patient at the age of 8 years and 9 months. As she subsequently grew more tumors of different types and lo cations, we feel inclined to add these findings to our previous report in order to draw atten tion to this syndrome of unilateral skin le sions associated with multiple neoplasms.…”

mentioning

confidence: 99%

Unilateral Skin Lesions Associated with Multiple Neoplasms

1984

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A girl with unilateral partly depigmented, partly hyperpigmented atrophic skin lesions, hypertrichosis, postauricular nodules, cataracts, and mild mental retardation is presented. Additionally, she developed multiple neoplasms as optic glaucoma, a psammomatous meningioma and an ameloblastoma. It remains unclear whether our patient suffers from a variant of the epidermal nevus syndrome or a new neuro-ectodermal dysplasia.

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Unilateral Skin Lesions, Cataracts, Optic Glioma and Retardation – a Variant of the Epidermal Nevus Syndrome?

Cited by 11 publications

References 0 publications

Happle-Tinschert Syndrome

Happle-Tinschert Syndrome

Congenital Systematized Basaloid Follicular Hamartoma with Microphthalmia and Hemimegalencephaly

Unilateral Skin Lesions Associated with Multiple Neoplasms

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