Association of Poland Syndrome and hypertrichosis in pubertal girl - Case report

Marina Krstevska-Konstantinova,Hristijan Nestorov,Konstandina Kuzevska-Maneva,Daniela Georgieva

doi:10.3889/aph.2021.6003

Marina Krstevska-Konstantinova, Hristijan Nestorov + Show 2 more

Open Access

https://doi.org/10.3889/aph.2021.6003

Copy DOI

Abstract

Poland syndrome (PS) is a rare congenital malformation, most commonly characterized by absence of chest wall muscles on one side of the body. It may be accompanied with other deformities of the extremities. We present the case of a 10-year-old girl with Poland syndrome and hypertrichosis of the back of the trunk and extremities. The clinical examination did not reveal the etiology of the syndrome, such as familial predisposition or some event that led to interrupted blood flow during the early embionic growth. The pregnancy was concieved with in vitro fertilization (IVF); triplets were born and our patient is one of these three girls. The hypertrychosis appeared at 8 years of life, without evidence of previous familial occurance, medications or hormonal disbalance. Other malformations that were found were: a mild form of kyphoscoliosis and mitral valve prolapse. The child was evaluated using a multidisciplinary approach, with further follow-up planned with surgical correction of the chest wall and breast augmentation.

Highlights

Poland syndrome (PS) is a rare congenital malformation, most commonly characterized by absence of chest wall muscles on one side of the body
A 10-year-old girl presented at the Pediatric Endocrinology Department due to unilateral breast development and hypertrichosis
The clinical examination did not reveal the etiology of the syndrome, such as familial patterns or some event leading to interrupted blood flow during the early embionic growth

Summary

Introduction

Poland syndrome (PS) is a rare congenital malformation, most commonly characterized by absence of chest wall muscles on one side of the body. Hypertrichosis, which may be congenital or acquired, is characterized by excessive hair growth anywhere аcross the body[2]. The clinical examination did not reveal the etiology of the syndrome, such as familial patterns or some event leading to interrupted blood flow during the early embionic growth. At the time of admission, the puberty has started and left breast was M33, while the right breast was absent, a small nipple was present. Chest wall deformity of the right thoracic cage was noted as well as a mild kyphoscoliosis (Figure 1). There was excessive hair growth on the extremities and the back of the trunk (Figure 2). Chest X-ray showed absent rib deformities, and normal lung transparency. Clinical follow-up was suggested until reconstruction and breast augmentation can be performed in late adolescence or adulthood

Discussion

Findings

Conclusion