Phacomatosis pigmentokeratotica: Speckled-Lentiginous Nevus in Association with Nevus sebaceus

Langenbach, N.; Hohenleutner, Ulrích; Landthaler, Míchael

doi:10.1159/000018035

Cited by 24 publications

(15 citation statements)

References 30 publications

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“…First, their potential to develop true basal cell carcinoma appears to be higher than usually observed in Schimmelpenning syndrome. 103,[118][119][120][121][122][123] Second, photographs of some patients with PPK are notable 122,123 for an unusual variant of sebaceous nevus in the form of nevus marginatus, a lesion characterized by brown papules that border a flat erythematous central area of sebaceous hyperplasia, whereas the elevated margin shows features of a nonorganoid EN. 124 Third, patients with PPK are remarkably prone to develop 45,70,85,90,122,[125][126][127] The incidence of such association appears to be higher than that observed in Schimmelpenning syndrome.…”

Section: Schimmelpenning Syndromementioning

confidence: 99%

The group of epidermal nevus syndromes

Happle

2010

Journal of the American Academy of Dermatology

208

171

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Section: Schimmelpenning Syndromementioning

confidence: 99%

The group of epidermal nevus syndromes

Happle

2010

Journal of the American Academy of Dermatology

208

171

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“…Papular SLN may occur as an isolated lesion [1, 4, 5, 8, 13, 14, 43, 46, 49] or as a component of phacomatosis pigmentokeratotica [1,27,28,29,30,31,32, 50, 51,55,56,57]or of SLN syndrome (table 4) [33]. Phacomatosis pigmentokeratotica has been proposed to represent an example of didymosis (twin spotting) [26].…”

Section: Papular Slnmentioning

confidence: 99%

Two Distinct Types of Speckled Lentiginous Nevi Characterized by Macular versus Papular Speckles

Cruz

Happle²

2006

Dermatology

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Background: Speckled lentiginous nevus (SLN; synonym: nevus spilus) is a darkly spotted light-brown macule that mostly occurs as an isolated lesion of rather limited dimensions but sometimes may involve large areas of the body. So far, this skin disorder has been considered to represent one clinical entity. Objective: Because SLN is occasionally associated with complex birth defects such as phacomatosis pigmentovascularis, phacomatosis pigmentokeratotica, or SLN syndrome, we tested our idea that two different types of SLN may exist, each one associated with a particular syndrome. Methods: A review of case reports on SLN published during the years 1970–2004 was performed. Results: This evaluation of cases provided evidence that two different types of SLN exist, in the form of macular versus papular SLN, each one being related to a specific syndrome. Macular SLN is characterized by a tannish-brown background with darker flat speckles. The distribution of speckles is rather even and resembles a polka-dot pattern. Histopathologically, this type of SLN is characterized by what has been called a ‘jentigo’ pattern in the darker speckles and by some nests of melanocytes at the dermoepidermal junction at the tips of the papillae, whereas the background pigmentation shows the microscopical features of a lentigo. Papular SLN is characterized by a light-brown macule superimposed by multiple melanocytic nevi in the form of papules or nodules that show a more uneven distribution reminiscent of a star map. Small dark macules may likewise be present. Histopathologically, the papular component consists of dermal or compound melanocytic nevi. A separation of the two types of SLN is important because our analysis showed that macular SLN is a hallmark of a particular type of phacomatosis pigmentovascularis, whereas papular SLN is typically present in phacomatosis pigmentokeratotica as well as in SLN syndrome. Conclusions: Macular SLN and papular SLN appear to be two distinct cutaneous entities. This dichotomy may turn out to be important when such nevi will be analyzed at the molecular level.

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“…If the mutations give rise to a clinically visible phenotype, the twin spot is evident as paired nevoid skin abnormalities. Several varieties have been described [Happle, 1995[Happle, , 1999Hermes et al, 1997;de las Heras et al, 1997;Langenbach et al, 1998;Tadini et al, 1998;Boente et al, 2000;Ruggieri, 2000;Happle and Konig, 2001;de Almeida and Happle, 2001;Juhlin and Olsson, 2001;Baba et al, 2002;Itin and Happle, 2002;LopezBarrantes et al, 2002] and are listed in Table I. Twin spots result from mitotic crossing-over between nonsister chromatids carrying mutant genes.…”

mentioning

confidence: 99%