Congenital rhabdomyosarcoma, central precocious puberty, hemihypertrophy and hypophosphatemic rickets associated with epidermal nevus syndrome

Shahgholi, E; Mollaian, Mansour; Haghshenas, Zahra; Honarmand, Malektaj

doi:10.1515/jpem.2011.378

Cited by 11 publications

(15 citation statements)

References 18 publications

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“…Coexistence of hypophosphatemia and focal bone lesions was observed in 26/51 subjects described in the literature [1, 7–9, 11, 12, 14, 16, 17, 19, 22, 24, 25, 27–29, 32, 35–37, 41, 42, 45, 49]. In 18/51 reports, hypophosphatemia and/or rickets was reported without mention of skeletal dysplasia, and radiographs were either not provided or did not demonstrate dysplasia [3, 11–13, 15, 18, 20, 21, 23, 26, 31, 33, 34, 38, 39, 48]. Seven of fifty-one reports described dysplastic lesions on radiographs, but serum phosphate was either not reported [40, 43, 44, 46, 47] or was within the normal age-related normal range at the time of the report [10, 30].…”

Section: Resultsmentioning

confidence: 99%

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Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment

et al. 2016

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Section: Resultsmentioning

confidence: 99%

“…f Distribution of nevi types in 51 CSHS patients identified in published reports. EN in 31/51 (61 %) [1, 8, 10–12, 18–30, 32, 35, 36, 39–43, 46, 47], PPK in 16/51 (31 %), [3, 9, 11, 13, 14, 16,17, 31, 33, 37–39, 44, 45, 48, 49], and giant CMN in 4/51 subjects (8 %) [7, 12, 15, 34] (color figure online)…”

Section: Figmentioning

confidence: 99%

Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment

et al. 2016

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“…49 Hypophosphatemic rickets was described in patients with extensive epidermal and/or melanocytic nevi and phakomatosis pigmentokeratotica. [50][51][52][53][54][55][56][57][58][59][60] Strikingly, all these cases share the same features (…”

Section: Rickets Associated With Epidermal and Melanocytic Nevi (Cumentioning

confidence: 99%

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

Litaiem

Chabchoub

Bacha

et al. 2020

Photoderm Photoimm Photomed

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Background Rickets is a common disease worldwide. In the developed world, its prevalence dramatically decreased but still diagnosed in at‐risk populations. The skin plays a critical role in vitamin D synthesis. Therefore, several skin diseases, especially keratinization disorders, could lead to impaired vitamin D metabolism and vitamin D deficient rickets. Objective The article aimed to summarize the current knowledge of skin diseases and conditions associated with rickets. Methods To examine the association between rickets and skin diseases, we performed a systematic review of the literature using PubMed database. The search included studies published from the database inception to August 2019. Results A total number of 75 articles were included. Identified conditions associated with rickets were ichthyosis being a more common skin diseases, alopecia, epidermal and melanocytic nevi, xeroderma pigmentosum, mastocytosis, psoriasis, and atopic dermatitis. Three types of rickets were identified: vitamin D‐dependent rickets, hypocalcemic vitamin D‐dependent rickets type 2, and hypophosphatemic rickets. Cutaneous skeletal hypophosphatemia syndrome is a newly described and under‐recognized condition. It is defined by the association of epidermal or melanocytic nevi, hypophosphatemic rickets, and elevated levels of fibroblast growth factor 23. Rickets in patients with ichthyosis was mainly due to impaired ability of ichthyotic skin to synthesize vitamin D, poor UV penetration of the skin caused by keratinocyte proliferation, and dark phototype. The latter may be considered a risk factor for rickets in patients with ichthyosis. Conclusion Despite its rarity, these associations should be properly recognized by dermatologists. Early diagnosis of rickets is important to prevent growth retardation and skeletal deformities.

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“…The first association of SFM syndrome with CPP was described by Moss et al in a 2-year-4 month-old boy with extensive verrucous nevi and secondary sexual characteristics [ 15 ]. Other cases with CPP have also been identified in Hong Kong [ 16 ], the United States [ 17 , 18 ], Germany [ 19 ], Iran [ 20 ], and India [ 21 ]. It has been proposed that extensive verrucous nevi release factors that would lead to a premature activation of the gonadotropic axis in these patients [ 18 , 21 ].…”

Section: Introductionmentioning

confidence: 99%

Association of Central Precocious Puberty with a Rare Presentation of Schimmelpenning–Feuerstein–Mims Syndrome in a Peruvian Girl

Torre

Villar

Lama

et al. 2020

Case Reports in Endocrinology

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Schimmelpenning–Feuerstein–Mims syndrome (SFM), an epidermal nevus syndrome characterized by skin lesions, has an estimated incidence of 1 per 10 000 live births. Nevus sebaceous, the most common cutaneous lesion, and verrucous nevus, the less frequent lesion, are coupled with a wide range of extracutaneous manifestations. As part of these manifestations, rarely, central precocious puberty can arise. We report the case of a 1-year-5-month-old girl who presented to the Endocrinology and Metabolism Department with breast enlargement that began at one year of age, growth of pubic and axillary hair three months later, and vaginal bleeding that occurred five months later. During clinical examination, melanocytic nevi, with a diameter ranging from 3 to 5 mm, were noted on the face. Verrucous nevi of variable size with a tendency for coalescence following the lines of Blaschko and melanocytic nevi with a diameter ranging from 3 to 6 mm were observed on the right hemibody and on the left hemibody, respectively. Right asymmetry of the lower extremities was observed. Laboratory findings showed a significant increase in the levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) after the gonadotropin-releasing hormone (GnRH) stimulation test; additionally, imaging demonstrated advanced bone age and pubertal changes in the internal genitals. Analyses of the H-RAS, K-RAS, and N-RAS genes in the blood and in the skin were performed, and a missense mutation in exon 2 of the gene, H-RAS c37G > C (p.G13R), was detected in the latter. Treatment with triptorelin, a GnRH analog, was initiated, and it gave good clinical response. Epidermal nevus syndrome has a wide and variable systemic involvement. Thus, it is important to consider the development of precocious puberty for a prompt diagnosis and to strategize a multidisciplinary approach from the beginning.

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Congenital rhabdomyosarcoma, central precocious puberty, hemihypertrophy and hypophosphatemic rickets associated with epidermal nevus syndrome

Cited by 11 publications

References 18 publications

Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment

Cutaneous skeletal hypophosphatemia syndrome: clinical spectrum, natural history, and treatment

Rickets in association with skin diseases and conditions: A review with emphasis on screening and prevention

Association of Central Precocious Puberty with a Rare Presentation of Schimmelpenning–Feuerstein–Mims Syndrome in a Peruvian Girl

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