atrichia congenita without ectodermal defects ( isolated form ) is a rare autosomal recessive condition characterized by the shedding of scalp hairs between one and six months of age , after which no growth occurs . eyebrow , eyelash and body hair may also be sparse or absent ; patients may have a few pubic and axillary hairs . isolated congenital alopecia has been reported to occur in both sporadic and familial forms . in the isolated familial form , inheritance is usually autosomal recessive , although dominant or irregular dominant inheritance has occurred in some families . the gene locus for familial cases is on chromosome 8p21 - 22 ( alunc - alopecia universalis congenitalis ) , and mutation of the human hairless ( hr ) gene on chromosome 8p21 - 22 produces the clinical picture of atrichia congenita . human hr gene is a homologue of the murine hairless gene and encodes a zinc - finger transcription factor protein that is expressed in the brain and the skin . a one - and - a - half - month - old male baby was brought by his maternal grandmother with complaints of frontoparietal scalp hair recession , sparse eyelashes and eyebrows [ figure 1 ] . the grandmother as well as two of her siblings ( one female and one male ) all had absent scalp , facial , axillary , and pubic hair since infancy . examination revealed complete absence of scalp , facial , axillary , and pubic hair with no papular skin lesions . three siblings ( two females and one male ) with absence of scalp , facial , pubic and axillary hair , along with the maternal grandson ( one - and - a - half - months ) having frontoparietal recession , sparse eyelashes and eyebrows there was no history of delayed milestones in the baby , hypohidrosis , bone pain , hearing loss , or seizures . the condition may be confused with congenital alopecia universalis , vitamin d dependant rickets , and ectodermal dysplasia . in our patients , congenital alopecia universalis was ruled out on the basis of lack of any history of sudden , patchy loss of normally appearing hair progressing to the loss of scalp , body , eyelash , andv eyebrow hair . vitamin d dependent rickets was ruled out on the basis of lack of any history of joint pain , normal serum vitamin d3 and calcium levels , and a normal wrist joint radiograph . ectodermal dysplasia was excluded as there was no history of delayed milestones or loss of sweating . teeth , nails , mucosa ( ectodermal components ) , palms , and soles were normal . the presence of a family history , history of consanguinity , and sparse eyebrows and eyelashes at the time of birth pointed to the diagnosis of atrichia congenita . our patients met two out of five major criteria supplemented by four minor criteria for the diagnosis of atrichia congenita ( isolated form ) . diagnostic criteria for atrichia congenita with papular lesions the case is being reported for its rarity .