Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus

Yen Yin Chou; Sheau Chiou Chao; Chiou Nan Shiue; Wen Hui Tsai; Shio Jean Lin

doi:10.1515/JPEM.2005.18.1.93

Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus

Yen Yin Chou, Sheau Chiou Chao, Chiou Nan Shiue, Wen Hui Tsai, Shio Jean Lin

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

Abstract

The association of hypophosphatemic rickets and epidermal nevus or giant hairy nevus is rare. We report two patients with hypophosphatemic rickets, one associated with epidermal nevus syndrome and the other with giant hairy nevus, and describe their clinical features and variable response to treatment. The abnormal nevus tissue may have contributed to the pathogenesis of hypophosphatemic rickets. We did not find a PHEX gene mutation in these two patients, and the mechanism for their rickets may be different from that in X-linked hypophosphatemic rickets.

Original language	English
Pages (from-to)	93-95
Number of pages	3
Journal	Journal of Pediatric Endocrinology and Metabolism
Volume	18
Issue number	1
DOIs	https://doi.org/10.1515/JPEM.2005.18.1.93
Publication status	Published - 2005 Jan

All Science Journal Classification (ASJC) codes

Pediatrics, Perinatology, and Child Health
Endocrinology, Diabetes and Metabolism
Endocrinology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1515/JPEM.2005.18.1.93

Cite this

@article{e7d4f1c4ea874c80a131268e4e9e4379,

title = "Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus",

abstract = "The association of hypophosphatemic rickets and epidermal nevus or giant hairy nevus is rare. We report two patients with hypophosphatemic rickets, one associated with epidermal nevus syndrome and the other with giant hairy nevus, and describe their clinical features and variable response to treatment. The abnormal nevus tissue may have contributed to the pathogenesis of hypophosphatemic rickets. We did not find a PHEX gene mutation in these two patients, and the mechanism for their rickets may be different from that in X-linked hypophosphatemic rickets.",

author = "Chou, {Yen Yin} and Chao, {Sheau Chiou} and Shiue, {Chiou Nan} and Tsai, {Wen Hui} and Lin, {Shio Jean}",

year = "2005",

month = jan,

doi = "10.1515/JPEM.2005.18.1.93",

language = "English",

volume = "18",

pages = "93--95",

journal = "Journal of Pediatric Endocrinology and Metabolism",

issn = "0334-018X",

publisher = "Walter de Gruyter GmbH & Co. KG",

number = "1",

}

TY - JOUR

T1 - Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus

AU - Chou, Yen Yin

AU - Chao, Sheau Chiou

AU - Shiue, Chiou Nan

AU - Tsai, Wen Hui

AU - Lin, Shio Jean

PY - 2005/1

Y1 - 2005/1

N2 - The association of hypophosphatemic rickets and epidermal nevus or giant hairy nevus is rare. We report two patients with hypophosphatemic rickets, one associated with epidermal nevus syndrome and the other with giant hairy nevus, and describe their clinical features and variable response to treatment. The abnormal nevus tissue may have contributed to the pathogenesis of hypophosphatemic rickets. We did not find a PHEX gene mutation in these two patients, and the mechanism for their rickets may be different from that in X-linked hypophosphatemic rickets.

AB - The association of hypophosphatemic rickets and epidermal nevus or giant hairy nevus is rare. We report two patients with hypophosphatemic rickets, one associated with epidermal nevus syndrome and the other with giant hairy nevus, and describe their clinical features and variable response to treatment. The abnormal nevus tissue may have contributed to the pathogenesis of hypophosphatemic rickets. We did not find a PHEX gene mutation in these two patients, and the mechanism for their rickets may be different from that in X-linked hypophosphatemic rickets.

UR - http://www.scopus.com/inward/record.url?scp=13644256411&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=13644256411&partnerID=8YFLogxK

U2 - 10.1515/JPEM.2005.18.1.93

DO - 10.1515/JPEM.2005.18.1.93

M3 - Article

C2 - 15679074

AN - SCOPUS:13644256411

SN - 0334-018X

VL - 18

SP - 93

EP - 95

JO - Journal of Pediatric Endocrinology and Metabolism

JF - Journal of Pediatric Endocrinology and Metabolism

IS - 1

ER -

Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus

Abstract

All Science Journal Classification (ASJC) codes

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this