Generalized Lentigo

Zeisler, Erwin P.

doi:10.1001/archderm.1936.01470070112010

Cited by 55 publications

(8 citation statements)

References 8 publications

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“…LS was first reported by Zeisler and Becker in 1936, in a 24-year-old woman presenting with multiple lentigines, increasing in number from birth to puberty, pectus carinatum, hypertelorism and prognathism [ 3 ]. A few decades later, Gorlin et al .…”

Section: Historical Notesmentioning

confidence: 99%

Leopard syndrome

Sárközy

Digilio

Dallapiccola

2008

Orphanet J Rare Dis

256

198

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LEOPARD syndrome (LS, OMIM 151100) is a rare multiple congenital anomalies condition, mainly characterized by skin, facial and cardiac anomalies. LEOPARD is an acronym for the major features of this disorder, including multiple Lentigines, ECG conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, and sensorineural Deafness. About 200 patients have been reported worldwide but the real incidence of LS has not been assessed. Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. The lentigines may be congenital, although more frequently manifest by the age of 4-5 years and increase throughout puberty. Additional common features are café-au-lait spots (CLS), chest anomalies, cryptorchidism, delayed puberty, hypotonia, mild developmental delay, sensorineural deafness and learning difficulties. In about 85% of the cases, a heterozygous missense mutation is detected in exons 7, 12 or 13 of the PTPN11 gene. Recently, missense mutations in the RAF1 gene have been found in two out of six PTPN11-negative LS patients. Mutation analysis can be carried out on blood, chorionic villi and amniotic fluid samples. LS is largely overlapping Noonan syndrome and, during childhood, Neurofibromatosis type 1-Noonan syndrome. Diagnostic clues of LS are multiple lentigines and CLS, hypertrophic cardiomyopathy and deafness. Mutation-based differential diagnosis in patients with borderline clinical manifestations is warranted. LS is an autosomal dominant condition, with full penetrance and variable expressivity. If one parent is affected, a 50% recurrence risk is appropriate. LS should be suspected in foetuses with severe cardiac hypertrophy and prenatal DNA test may be performed. Clinical management should address growth and motor development and congenital anomalies, in particular cardiac defects that should be monitored annually. Hypertrophic cardiomyopathy needs careful risk assessment and prophylaxis against sudden death in patients at risk. Hearing should be evaluated annually until adulthood. With the only exception of ventricular hypertrophy, adults with LS do not require special medical care and long-term prognosis is favourable.

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Section: Historical Notesmentioning

confidence: 99%

Leopard syndrome

Sárközy

Digilio

Dallapiccola

2008

Orphanet J Rare Dis

256

198

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“…As expected, we found no melanin granules in the HE preparation-and certainly nothing re¬ sembling the large granular globules of melanin reported by Pierini. Large globules of melanin have been reported in generalized lentigines 14 and in neurofibromatosis,1 but never to the ex¬ tent observed in Pierini's case, and we must con¬ clude that Pierini's findings are inexplicable at this time.…”

Section: Commentmentioning

confidence: 63%

Chediak-Higashi Syndrome

Stegmaier¹

1965

Arch Dermatol

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“…Lentiginose profuse, the term introduced by Darier (1902) and used since from time to time in the French and German literature, stresses the abundance and widespread distribution of the lesions rather than their abrupt onset, which was striking in several of the reported cases. This type of onset separates these cases from those of generalized lentigo such as were described by Zeisler andBecker (1936) and Fisher (1951) and from the not uncommon cases of disseminated pigmented cellular naevi. It is probably in the last group that the case described by Hutchinson (1868) belongs.Darier's original case, briefiy reported with a photograph in La Pratique Dermalologique (1902), was that of a girl, aged 6 years, who broke out in innumerable spots following an attack of German measles.…”

mentioning

confidence: 56%

Eruptive Telangiectatic Cellular Naevi.

Sanderson¹

1960

British Journal of Dermatology

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Generalized Lentigo

Cited by 55 publications

References 8 publications

Leopard syndrome

Leopard syndrome

Chediak-Higashi Syndrome

Eruptive Telangiectatic Cellular Naevi.

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