The differential diagnosis of familial lentiginosis syndromes

Lodish, Maya; Stratakis, Constantine A.

doi:10.1007/s10689-011-9446-x

Cited by 51 publications

(60 citation statements)

References 92 publications

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“…The mucosae are spared [8]. Histopathologically, all the lentigines show similar findings [8,9]. Since our patient was not black, her facial lentigines were located on the face and lips but not in mucosa, and absence of any syndromal relation, they were not thought to be associated with the mentioned lentiginous conditions.…”

Section: Discussionmentioning

confidence: 51%

Giant Maculo-Papular Speckled Lentiginous Nevus Associated with Isolated and Centrofacial Located Lentiginosus

Sar¹

2015

Pigmentary Disorders

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Lentigines are usually flat, pigmented macules on the skin and mucosa. These lesions are characterized by mostly smaller than 0.5 cm, irregular borders and different shades of brown and black. They can be in the form of circumscribed or widespread lesions, and occur either as isolated lesion or as a part of some congenital syndromes. The speckled lentiginous nevus is also named as Nevus Spilus which is a peculiar acquired lentiginous nevus, which can be divided into two distinct clinicopathological variants as macular and papular. On the other hand, centrofacial lentiginosus is a special form of congenital lentiginosus which is inherited as autosomal dominant, and is usually associated with some neurological and psychiatric findings. We report a 43-year old woman with a giant maculo-papular speckled lentiginous nevus associated with a different and non-syndromal isolated centrofacial lentiginosus. To the best of our knowledge this association has not been reported previously.

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Section: Discussionmentioning

confidence: 51%

Giant Maculo-Papular Speckled Lentiginous Nevus Associated with Isolated and Centrofacial Located Lentiginosus

Sar¹

2015

Pigmentary Disorders

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“…The syndromes in which Ras pathway is activated the-so-called Rasopathies consist of NS, Multiple Lentigines syndrome, HGFS, CM-AVS, NF-1, LS, CS, CFC and ALMS. 5,6 Cutaneous abnormalities including lentiginosis are frequently observed in Rasopathies in addition to predisposition to neural, endocrine and mesenchimal tumors and myeloproliferative diseases. Polycythemia Vera, presented in our patient, is a myeloproliferative disorder of bone marrow that red blood cells are produced in large amounts.…”

Section: Discussionmentioning

confidence: 99%

Lentiginoses in polycythemia vera patient: Is there a role forJAK2 (V617F)mutation?

et al. 2015

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ABSTRACT. Lentiginoses is a clinical feature in which lentigines are remarkably present in large numbers or when they occur in a distinctive distribution on apparently normal skin. This entity may be congenital or acquired and may cover a wide spectrum of diseases ranging from an isolated benign pigmentary disorder to numerous syndromes associated with molecular abnormalities.We present a 59-year-old female patient with multiple lentigines which first emerged 3 y ago concurrently with policytemia vera. The patient had found to be positive for Janus Kinase-2 (JAK-2) mutation. Over activation of the pathway due to JAK-2 V617F mutation is a well-known condition in myeloproliferative diseases but has not been reported in melanocytic disorders. Moreover, several signaling pathways have previously been defined with lentiginosis except JAK-STAT pathway. We want to draw attention to the potential effect of JAK-2 mutation in lentigogenesis with this case report.

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“…The hallmark of this syndrome is the presence of pigmented spots on the lips, which are first present in early childhood (34–39). These lesions are associated with gastrointestinal hamartomatous polyps (38, 39).…”

Section: Peutz-jeghers Syndromementioning

confidence: 99%

Hereditary syndromes predisposing to endocrine tumors and their skin manifestations

Stratakis

2016

Rev Endocr Metab Disord

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We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in additions to many other neoplasms. On the other hand, the classic MENs, type 1 and 2 (MEN-1 and MEN-2, respectively) are almost never thought in terms of their skin manifestations. In this review, we present extensively the MEN-1, MEN-2 and PJS syndromes, and briefly refer to CD, NF-1, and TSC. CNC is discussed in another article in this journal issue.

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The differential diagnosis of familial lentiginosis syndromes

Cited by 51 publications

References 92 publications

Giant Maculo-Papular Speckled Lentiginous Nevus Associated with Isolated and Centrofacial Located Lentiginosus

Giant Maculo-Papular Speckled Lentiginous Nevus Associated with Isolated and Centrofacial Located Lentiginosus

Lentiginoses in polycythemia vera patient: Is there a role forJAK2 (V617F)mutation?

Hereditary syndromes predisposing to endocrine tumors and their skin manifestations

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