Atrichia with papular lesions (APL) is a hair abnormality characterized by loss of hair on the scalp and rest of the body. In a few cases, hair loss is accompanied by the appearance of keratotic papules on the body. It is inherited in an autosomal recessive manner. Sequence variants in the HR (hairless) gene are responsible for this hair abnormality. Here, we present nine consanguineous families and one nonconsanguineous family with clinical manifestations of APL. Whole exome followed by Sanger sequencing and/or direct Sanger sequencing was performed to identify pathogenic variants. The study revealed seven novel pathogenic variants c.794del;p.(Pro265Argfs*98), c.2921-2936del;p.(Tyr974Leufs*16), c.2889C>A;p.(Cys963*), c.2689C>T;p.(Gln897*), c.3186_3187dup;p.(Gln1063Profs*43), c.560dup;p.(Tyr188Ilefs*131), c.2203+5G>C, c.2776+5G>A, and the previously reported variant c.1837C>T;p.(Arg613*) in HR in these families. The study not only expands the mutational spectrum in the HR gene but also highlights the unusual phenotypic findings and will facilitate genetic counseling of families with members showing various types of hair loss disorders in the local population.

Complete scalp hair loss can be a source of distress for affected children and their families. In addition to infectious and trauma-related causes of hair loss, infants and children may present with total scalp alopecia arising from a range of genetic predispositions. Our objective with this review was to identify the common genetic conditions in children with complete scalp alopecia. The PubMed Database was reviewed for all articles from 1962 to 2019 containing the search terms related to genetic alopecia. The conditions with at least five reported cases in the literature were considered for the inclusion. All clinical trials, retrospective studies, and cases on human subjects and written in English were included. Six genetic conditions related to complete scalp alopecia were included in this review. The most common genetic conditions associated with total scalp hair loss include: alopecia totalis/Alopecia universalis (AU), atrichia with papular lesions, AU congenita, hereditary Vitamin D-resistant rickets type IIA, alopecia with mental retardation, and pure hair and nail ectodermal dysplasia. In children presenting with total scalp hair loss, a myriad of genetic and environmental factors may be the underlying cause. Increased awareness of potential genetic conditions associated with total scalp hair loss may assist in diagnosis, with improved the prognosis for the children.