Hajare Sumit Ashok, Gavali Sujit, Mukhi Jayesh, Singh Rajesh Pratap
Department of Dermatology, Venereology and Leprosy, Government Medical College, Nagpur, Maharashtra.
Dermatol Online J. 2020 Apr 15;26(4):13030/qt5631x9sh.
Congenital atrichia with papular lesions is a rare, autosomal recessive and irreversible form of total alopecia of the body hair characterized by hair loss soon after birth and the development of keratinfilled cysts or horny papules over extensive areas of the body. The condition is associated with a mutation of the human hairless gene on chromosome region 8p12. We report a 1-year-old boy presenting with the absence of scalp and body hair since birth. On examination, he had complete absence of hair on the scalp, eyebrows, and eyelashes. Multiple, discrete, pearly-to-skin-colored papules of 1-3mm in size were present over the scalp. The skin biopsy from a scalp papule revealed normal overlying epidermis with multiple keratin cysts and hypoplastic hair follicles in the upper dermis.
先天性无毛伴丘疹性损害是一种罕见的常染色体隐性遗传性、不可逆的全身性毛发脱落疾病，其特征为出生后不久即出现脱发，并在身体广泛区域出现充满角蛋白的囊肿或角质丘疹。该疾病与位于8号染色体区域8p12上的人类无毛基因的突变有关。我们报告一名1岁男童，自出生以来即无头皮毛发和身体毛发。检查发现，他的头皮、眉毛和睫毛完全没有毛发。头皮上有多个大小为1 - 3毫米、离散的、珍珠色至肤色的丘疹。头皮丘疹的皮肤活检显示，表皮正常，真皮上层有多个角质囊肿和发育不全的毛囊。
