Four Hereditary Mucosal Syndromes

Witkop, Carl J.

doi:10.1001/archderm.1961.01580170056008

Cited by 61 publications

(9 citation statements)

References 13 publications

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“…M icrovilli, some branched, extend into the interior o f the in clusion. x 33,000. present case have been described in cytological smears of the oral mucosa from pa tients with Darier-White's disease [12]. The 'corps ronds' of Darier's disease consist of a largely autolyzed cell surrounded by a dense layer of tonofilaments and containing a pyknotic nucleus [13], and are thus dis tinctly different from the inclusions de scribed here.…”

Section: Discussionmentioning

confidence: 84%

Unusual Intracytoplasmic Inclusions in a Case of Idiopathic Scleritis

Spinak¹,

Dembitzer²

1978

Ophthalmologica

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Section: Discussionmentioning

confidence: 84%

Unusual Intracytoplasmic Inclusions in a Case of Idiopathic Scleritis

Spinak¹,

Dembitzer²

1978

Ophthalmologica

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“…12 Therefore, these cases do not meet the diagnostic criteria for HBID and should probably be classified as one of the closely related disorders that affect only the oral mucosa. 19 Thus, this report represents only the fifth non Native American proband with confirmed HBID, and serves as a reminder to ophthalmologists to consider the diagnosis of HBID, even in the absence of Native American ancestry and a family history.…”

Section: Discussionmentioning

confidence: 92%

Hereditary Benign Intraepithelial Dyskeratosis: Report of a Case and Re-examination of the Evidence for Locus Heterogeneity

Bui

Young

Frausto

et al. 2014

Ophthalmic Genetics

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Background Hereditary benign intraepithelial dyskeratosis (HBID) is a rare autosomal-dominant disorder of the conjunctiva and oral mucosa first described in and predominantly affecting descendents of Haliwa-Saponi Native Americans. We report a spontaneous case of histopathologically-confirmed HBID affecting an individual not of Native American ancestry. Materials and Methods Report of a case with histopathologic examination of an excised conjunctival specimen as well as molecular and cytogenetic analysis. Results A Caucasian boy with a history of oral lesions and conjunctival injection from birth developed bilateral corneal opacities at age 5 and underwent penetrating keratoplasty, with recurrence of the corneal opacification shortly after surgery. Examination of a conjuctival biopsy specimen revealed features consistent with HBID. Copy number variant (CNV) analysis revealed a de novo 4q35 duplication that overlapped the duplication previously associated with HBID, although no genes were identified in the common interval. NLRP1 gene sequencing failed to reveal a presumed pathogenic variant. Conclusions HBID may develop de novo in individuals who are not of Native American ancestry. The absence of coding regions in a duplicated region of 4q35 common to both the individual that we report and previously associated with HBID raises questions regarding the significance of this CNV in the pathogenesis of HBID.

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“…All these clinical features of white sponge nevus arc similar to our case. Ex traoral lesions of white sponge nevus involv ing the rectum [8], the nasal mucosa [9], the vagina [10] or the esophagus [11] are some times found. But histologically the white sponge nevus is quite different from our case.…”

Section: Discussionmentioning

confidence: 99%