Ann Dermatol.  2019 Aug;31(Suppl):S12-S13. 10.5021/ad.2019.31.S.S12.

A Case of Hyaline Fibromatosis Syndrome with a New Variant of Genetic Mutation in ANTXR2 Gene

• Park CS
• Lee J
• Byun HJ
• Lim Y
• Park JH
• Lee JH
• Lee DY
• Lee JH
• Yang JM
• Lee JH
• Yoo SY

• KMID: 2456662
• DOI: http://doi.org/10.5021/ad.2019.31.S.S12

Abstract

No abstract available.

MeSH Terms

Hyalin*
Hyalinosis, Systemic*

Figure

• 

  Fig. 1 (A) Multiple pear-like papules on head and neck area. (B) Hyperpigmentation of the skin over lateral malleolus, metacarpophalangeal joint of hand and the knee. We received the patient's consent form about publishing all photographic materials.

• 

  Fig. 2 c.710T>G (p.Ile237Ser) variant on ANTRX2 exon 9 was found as homozygous.

Reference

1. Antaya RJ, Cajaiba MM, Madri J, Lopez MA, Ramirez MC, Martignetti JA, et al. Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene. Am J Dermatopathol. 2007; 29:99–103.

2. Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, et al. Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet. 2003; 73:957–966.

3. Shieh JTC, Hoyme HE, Arbour LT. Hyalinosis, inherited systemic. In : Adam MP, Ardinger HH, Pagon RA, Wallace SE, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle;2013.

4. Scobie HM, Rainey GJ, Bradley KA, Young JA. Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. Proc Natl Acad Sci U S A. 2003; 100:5170–5174.

5. Mantri MD, Pradeep MM, Kalpesh PO, Pranavsinh RJ. Hyaline fibromatosis syndrome: a rare inherited disorder. Indian J Dermatol. 2016; 61:580.