Extensive Linear Epidermal Nevus Associated with Hemangiomas of Bones and Vitamin-D-Resistant Rickets

Stosiek, N; Hornstein, O P; Hiller, D.; Peters, K.‐P.

doi:10.1159/000246861

Cited by 20 publications

(25 citation statements)

References 10 publications

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“…All described severe skeletal hypomineralization and most met the diagnostic criteria for hypophosphatemic vitamin-Dresistant rickets. Of the 33 total cases, including our own, 8 (24%) also reported distinctly asymmetrical bone disease including more severe changes ipsilateral to the skin lesions [Martinez and Gimenez, 1985;Skovby et al, 1987;Rustin et al, 1989;Feldmann et al, 1990;Stosiek et al, 1994;Muhle et al, 1998;Hoffman et al, 2005]. This relationship was true for our patient; however, it is not invariable as focal bone disease can also be found contralateral to the skin lesions in ENS [Rustin et al, 1989;Oranje et al, 1994;Hosalkar et al, 2003].…”

Section: Discussionsupporting

confidence: 58%

Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?

Heike

Cunningham

Steiner

et al. 2005

American J of Med Genetics Pt A

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Epidermal nevus syndrome (ENS) is a rare, sporadic, congenital disorder of unknown etiology featuring a complex and highly variable phenotype that can include focal or generalized skeletal disease. We describe a young man with ENS manifesting right-sided linear skin lesions, generalized weakness, diffuse osteopenia associated with hypophosphatemic rickets, and distinctive focal bone lesions ipsilateral to the skin findings. Review of the literature concerning ENS-associated skeletal disease suggested such focal bone defects are fibrous dysplasia, but our patient did not have the typical radiographic or histopathologic findings of fibrous dysplasia. Nevertheless, his circulating fibroblast growth factor 23 (FGF-23) level was elevated, likely functioning as a "phosphatonin," yet no activating mutations in GNAS previously reported in fibrous dysplasia or McCune-Albright syndrome were detected in his leukocytes or affected skin. We postulate that the focal skeletal disease, although different than fibrous dysplasia, may be a source of FGF-23 in ENS.

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Section: Discussionsupporting

confidence: 58%

Skeletal changes in epidermal nevus syndrome: Does focal bone disease harbor clues concerning pathogenesis?

Heike

Cunningham

Steiner

et al. 2005

American J of Med Genetics Pt A

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“…Further studies have to clarify the possible relation of phosphaturia and nevus sebaceus. Stosiek et al [20]describe a patient with an extensive epidermal nevus associated with hemangiomas of bones and vitamin-D-resistant rickets. They suppose that vitamin-D-resistant rickets combined with skeletal tumors represents a peculiar type of osteomalacia caused by unilateral mesenchymomas [20].…”

Section: Discussionmentioning

confidence: 99%

“…Stosiek et al [20]describe a patient with an extensive epidermal nevus associated with hemangiomas of bones and vitamin-D-resistant rickets. They suppose that vitamin-D-resistant rickets combined with skeletal tumors represents a peculiar type of osteomalacia caused by unilateral mesenchymomas [20]. Moreover, there is one report regarding a patient with widespread hemangiomas of bone and rickets.…”

Section: Discussionmentioning

confidence: 99%

Schimmelpenning-Feuerstein-Mims Syndrome with Hypophosphatemic Rickets

Zutt¹,

Strutz²,

Happle³

et al. 2003

Dermatology

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The Schimmelpenning-Feuerstein-Mims syndrome (SFM syndrome) is a rare and variable multisystem defect consisting of congenital, extensive linear nevus sebaceus and associated abnormalities in different neuroectodermal organ systems. We present the history of a 52-year-old female patient with disproportionate hyposomia and asymmetric constitution. From birth she suffered from a right-sided, extensive nevus sebaceus following Blaschko’s lines extending on the scalp, neck, right arm and trunk. At the age of 5 years, she developed a generalized growth retardation, along with deformations of bones. At the age of 11, hypophosphatemic rickets was diagnosed causing this growth retardation. Moreover, the patient developed a precocious puberty at the age of 9 years. When we saw the patient 40 years after the diagnosis had been made, phosphaturia had returned to normal. Specific therapy of hypophosphatemic rickets is straightforward and efficient in preventing late complications like growth retardation. We suggest to conduct appropriate laboratory tests in early childhood in patients with an extensive systematized sebaceous nevus or with additional signs of growth retardation or skeletal involvement, in order to exclude hypophosphatemic rickets associated with SFM syndrome.

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“…24,71,[75][76][77] As an unusual complication, some patients with Schimmelpenning syndrome develop vitamin Deresistant hypophosphatemic rickets. 27,40,[78][79][80][81][82][83][84][85][86][87][88] In 2003, we proposed the term ''HYPHEN'' syndrome as an acronym for hypophosphatemia with epidermal nevus. 89 Today, however, we agree that this combination of anomalies can be best categorized as a clinical variant of Schimmelpenning syndrome, which is why the term HYPHEN syndrome appears to be superfluous.…”

Section: Schimmelpenning Syndromementioning

confidence: 99%