White Sponge Nevus with Epidermolytic Changes

Aloi, F.; A, Molinero

doi:10.1159/000248588

Cited by 18 publications

(6 citation statements)

References 12 publications

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“…The lesions most commonly affect the buccal mucosa but may also occur on other non-cornifying, wet mucosa (MIM 193900;Mc-Kusick, 1997). Histological features include thickening and vacuolisation of the spinous cell layers, intracellular oedema, acanthosis and tonofilament (keratin) aggregates in suprabasal cells (McGinnis and Turner, 1975;Frithiof and Banoczy, 1976;Aloi and Molinero, 1988).…”

Section: Introductionmentioning

confidence: 99%

Identification of two novel mutations in keratin 13 as the cause of white sponge naevus

et al. 1999

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BACKGROUND: White sponge naevus (WSN) is a rare autosomal dominant condition which is characterised by benign, white spongy plaques (oral leukokeratoses) affecting non‐cornifying, wet mucosa. WSN shares several ultrastructural characteristics (eg, epithelial thickening, acanthosis, keratin filament aggregation) with a number of epithelial disorders caused by mutations in keratin genes and to‐date two mutations, one in each of the mucosal specific keratins, K4 and K13, have been identified as the molecular basis of the disorder. OBJECTIVES: To identify the molecular basis of WSN in two families with a history of the disease. RESULTS: Two novel mutations were identified in helix initiation motif of K13.A T‐to‐C transition was found in the affected members of one family which is predicted to change leucine115 to proline. In the second family, a similar T‐to‐C transition was found in codon 108 which is predicted to change methionine to threonine in the protein sequence. These changes were not found in 50 unrelated, unaffected individuals. CONCLUSIONS: The mutations in the helix initiation motif of K13 are the cause of WSN in these families. These cases confirm mutations in the mucosal specific keratins as a significant cause of the disorder.

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Section: Introductionmentioning

confidence: 99%

Identification of two novel mutations in keratin 13 as the cause of white sponge naevus

et al. 1999

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“…Upon establishing differential diagnosis from the histological viewpoint, one must take into account the possibility in WSN of encountering histological changes compatible with epidermolytic hyperkeratosis (characterized by hypergranulosis with an increased number of irregular shaped keratohyaline granules, hyperkeratosis, vacuolar degeneration and indistinct cellular boundaries of spinous and granular cells) [9]. These changes, which were initially described only in bullous congenital ichthyosiform erythroderma [10,11], have occasionally been described in other congenital or nevoid skin conditions (epidermal nevus, nevus comedonicus) [12] and incidentally in the normal mucosa adjacent to spinocellular or basal cell carcinoma lesions [13].…”

Section: Discussionmentioning

confidence: 99%

White sponge nevus. Seven cases in the same family

Rodríguez‐Serna

Pérez

Febrer

et al. 1995

Acad Dermatol Venereol

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Seven cases of white sponge nevus in seven women of the same family are reported. At birth the patients had lesions consisting of asymptomatic white spongy plaques located on the oral mucosa; in two patients the lesions also involved the vaginal mucosa. The lesions improved after antibiotic treatment. Histology was performed in four cases and an ultrastructural study in one. The findings were consistent with the diagnosis of white sponge nevus in all cases. Differential diagnosis was made with other conditions presenting as white lesions of the oral mucosa. Keywords: White sponge nevus; Ultrastructural study of white sponge nevus; Oral lesions; Vaginal lesions; Esophageal lesions " Corresponding author. 0926-9959/95/$09.50 © 1995 Elsevier Science B.V, All rights reserved SSDI 0926-9959(95)00013-5 Fig. 1. Pedigree,

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“…Different areas of the oral mucosa and extraoral sites will vary from patient to patient, and the distribution of lesions can change with time in the same patient, although generally lesions remain unchanged 1, 9 . Although one case of squamous cell carcinoma was reported arising in a WSN 10 , the disease is believed to have a benign clinical course1.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Perianal White Sponge Nevus In A Hispanic Female: A Case Study

2000

IJANP

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This article presents a case history of white sponge nevus (WSN) in the perianal area of a 23-year-old Hispanic female. WSN is a rare, autosomal dominant disorder that affects the noncornified stratified squamous epithelia. Clinically, the lesions are characterized by the presence of white, spongy plaques in the oral cavity. Extraoral lesions are found in other mucosal sites but are relatively uncommon in the absence of oral manifestations. Because WSN is rare, the differential diagnosis of this lesion may be difficult and the diagnosis is best made by a tissue biopsy performed in the context of a detailed patient and family history. The problems associated with differential diagnosis are addressed.

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White Sponge Nevus with Epidermolytic Changes

Cited by 18 publications

References 12 publications

Identification of two novel mutations in keratin 13 as the cause of white sponge naevus

Identification of two novel mutations in keratin 13 as the cause of white sponge naevus

White sponge nevus. Seven cases in the same family

Perianal White Sponge Nevus In A Hispanic Female: A Case Study

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