Localization of Peutz-Jeghers Macules to Psoriatic Plaques

Banse-Kupin, Lenise

doi:10.1001/archderm.1986.01660180085021

Cited by 14 publications

(5 citation statements)

References 14 publications

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“…An alternative theory is that the PJS freckles are actually benign neoplasms of melanocytes (or some precursor), which have a very limited growth potential and do not seem to increase in size throughout life (Tomlinson and Bodmer, 1996); indeed, PJS pigmentation often fades in middle age. This theory is extremely difficult to test, because PJS freckles are hardly ever biopsied, but is consistent with data showing that PJS pigmentation can occur in proliferative lesions such as psoriatic plaques (Banse-Kupin et al, 1986).…”

supporting

confidence: 67%

Somatic Mutations in the Peutz-Jegners (LKB1/STKII) Gene in Sporadic Malignant Melanomas

Rowan¹,

Bataille²,

MacKie

et al. 1999

Journal of Investigative Dermatology

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Germline mutations in the LKB1/STK11 gene cause characteristic hamartomas and freckling to develop in patients with Peutz-Jeghers syndrome (PJS). The hamartomas arise as a result of somatic "second hits" at LKB1/STK11 and therefore contain a neoplastic element. The origin of the pigmented lesions in PJS is unknown and difficult to test, as these are hardly ever biopsied. PJS patients are at increased risk of benign and malignant tumors, particularly of the colon, breast, pancreas, testis, and ovary, although the increased risk for any one of these sites may be quite modest. Somatic LKB1/STK11 mutations have been found, albeit at a low frequency, in sporadic tumors of the colon, stomach, ovary, and testis. Although PJS patients are not known to have an excess of skin tumors, if the freckles of PJS patients are actually small, benign tumors, LKB1/STK11 mutations must provide these lesions with a selective advantage, and similar mutations might also give a selective advantage to related malignant tumors, such as melanomas. We have therefore screened 16 melanoma cell lines, 15 primary melanomas, and 19 metastases for LKB1/STK11 mutations. Two LKB1/STK11 mutations were found: a missense change (Y49D) accompanied by allele loss in a cell line; and a missense change (G135R), without a detected mutation in the other allele, in a primary tumor. Both these mutations are highly likely to be pathogenic. Novel polymorphisms, including an unusual heptanucleotide repeat, were also found in introns 2 and 3. LKB1/STK11 mutations occur in a significant minority of tumors of several sites, including malignant melanomas.

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supporting

confidence: 67%

Somatic Mutations in the Peutz-Jegners (LKB1/STKII) Gene in Sporadic Malignant Melanomas

Rowan¹,

Bataille²,

MacKie

et al. 1999

Journal of Investigative Dermatology

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“…In conclusion, pigmentation should not form the basis of a PJS diagnosis, as similar pigmentation is not rare in the unaffected population [25]. Psoriasis and PJS have been described in the same patient [39]. In addition to the usual loci, the melanin spots were localized also in psoriatic plaques in sites not usually seen in PJS patients: scalp, elbow, buttocks and legs.…”

Section: Review Articlementioning

confidence: 99%

The molecular basis and clinical aspects of Peutz-Jeghers syndrome

Hemminki¹

1999

CMLS, Cell. Mol. Life Sci.

186

108

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Peutz-Jeghers syndrome (PJS) is a classic, but not widely known hereditary trait [1, 2]. Its clinical hallmarks are intestinal hamartomatous polyposis and melanin pigmentation of the skin and mucous membranes. In addition, PJS predisposes to cancer [3, 4]. The most common malignancies are small intestinal, colorectal, stomach and pancreatic adenocarcinomas. Other cancer types that probably occur in excess in PJS families include breast and uterine cervical cancer, as well as testicular and ovarian sex cord tumors. The relative risk of cancer may be as high as 18 times that of the general population, and the cancer patients' prognosis is reduced. Recently, the predisposing locus was mapped to 19p13.3 using a novel method [5]. Subsequently, the causative gene was shown to be LKB1 (a.k.a. STK11), a serine/threonine kinase of unknown function [6]. Although preliminary reports seem to suggest a minor role for LKB1 in sporadic tumorigenesis [7-12], further investigations are needed.

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“…Interestingly, macular pigmentation has also been described on psoriatic plaques in patients with PJS . It has been suggested that patients with PJS develop polyps in areas of frequent trauma, such as the bowel and nasopharynx.…”

Section: Reportmentioning

confidence: 99%

“…Interestingly, macular pigmentation has also been described on psoriatic plaques in patients with PJS. 9,10 It has been suggested that patients with PJS develop polyps in areas of frequent trauma, such as the bowel and nasopharynx. Banse-Kupin et al therefore hypothesized that this predisposition could also exist in the skin, with the development of pigmented macules rather than polyps in response to injury.…”

Section: Reportmentioning

confidence: 99%

“…Banse‐Kupin et al . therefore hypothesized that this predisposition could also exist in the skin, with the development of pigmented macules rather than polyps in response to injury . It is possible that a Koebner phenomenon underlies the development of pigmented macules, hence their localization to areas of frequent trauma such as the lips, tongue, mouth, hands, fingers and feet.…”

Section: Reportmentioning

confidence: 99%

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Macular pigmentation complicating irritant contact dermatitis and viral warts in Laugier-Hunziker syndrome

Bhoyrul

Paulus

2015

Clin Exp Dermatol

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Laugier-Hunziker syndrome (LHS) is a rare acquired disorder characterized by macu-lar pigmentation of the lips and oral mucosa, with frequent longitudinal melanonychia. Involvement of other areas, such as the genitalia and fingers, has rarely been described. LHS is a benign condition with no known systemic manifestations. We report the case of a woman who developed melanotic macules on her fingers and elbow 16 years after the onset of pigmentation of her lips. This unusual feature of LHS in our patient was associated with irritant contact dermatitis and viral warts. Only two cases of an association with an inflammatory dermatosis have been reported previously in the literature.

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Localization of Peutz-Jeghers Macules to Psoriatic Plaques

Abstract: We report a case of the Peutz-Jeghers syndrome in which the characteristic pigmented macules developed within preexisting psoriatic plaques in sites extremely unusual for the syndrome. To our knowledge, ours is the first report of such a case in the English literature.

Cited by 14 publications

References 14 publications

Somatic Mutations in the Peutz-Jegners (LKB1/STKII) Gene in Sporadic Malignant Melanomas

Somatic Mutations in the Peutz-Jegners (LKB1/STKII) Gene in Sporadic Malignant Melanomas

The molecular basis and clinical aspects of Peutz-Jeghers syndrome

Macular pigmentation complicating irritant contact dermatitis and viral warts in Laugier-Hunziker syndrome

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