Congenital atrichia associated with situs inversus and mesocardia.

Congenital alopecia includes a broad differential diagnosis and presents a diagnostic and therapeutic challenge for the physician. Congenital atrichia is a rare form of irreversible alopecia that is usually inherited as an autosomal recessive pattern. We report a 2-year-old male child presenting with total alopecia of scalp, eyebrows, eyelashes, and body hair since birth. The child had cardiac malposition with situs inversus of the viscera. Computed tomography of the chest and abdomen revealed median position of the heart with transposition of abdominal viscera. To our knowledge, this is the first case of congenital atrichia associated with situs inversus and mesocardia.

INTRODUCTION

Congenital atrichia refers to total absence of hair from birth. It may occur as an isolated defect or in association with a wide range of anomalies.[1] Congenital atrichia without associated ectodermal abnormalities is very rare and is inherited as an autosomal recessive trait.[2] We report a rare case of congenital atrichia associated with situs inversus of the viscera and mesocardia which has not been earlier reported in the literature.

CASE REPORT

A 2-year-old male child born of consanguineous marriage presented to Pediatric dermatology OPD for evaluation of the complete absence of hairs on scalp, eyebrows, and eyelashes since birth. There was history of sparse hair erupting after birth which eventually was shed in 2 months. There was no history suggestive of abnormalities in hearing, dentition, epilepsy, and mental retardation, intolerance to heat, or immunodeficiency. Child did not have any associated skin or nail disorders. Developmental milestones were normal. Child's maternal aunt had alopecia of scalp and was diagnosed as having Keratosis follicularis spinulosa decalvans. Past history was remarkable for bronchopneumonia and congenital lobar emphysema. The child was diagnosed to have situs inversus of the viscera with mesocardia.

Cutaneous examination revealed total alopecia of the scalp, eyebrows, and eyelashes and all over the body [Figure 1]. Palms and soles, nails, and mucosa were normal. Complete blood count and serum chemistry profile was normal. Vitamin D3 levels (1, 25 dihydroxy cholecalciferol) were normal. Skin biopsy from the scalp revealed normal epidermis with few miniaturized hair follicles. Situs inversus of the viscera with mesocardia in the child had been confirmed by chest X ray and computed tomography of chest and abdomen [Figure 2]. Based on clinical presentation and histological findings, a diagnosis of congenital atrichia with situs inversus with mesocardia was made.

Figure 1

Two-year-old male child with total alopecia of scalp, eyebrows, and eyelashes

Figure 2

CT-scan of chest and abdomen showing mesocardia with liver on left side and spleen on the right side

DISCUSSION

Congenital atrichia is the complete absence of hair from birth. It can be inherited as an autosomal recessive or autosomal dominant or X linked pattern.[1] The cases inherited as autosomal recessive are generally the most severe form and are present since birth. Congenital atrichia presents as total alopecia at birth, but sometimes scalp hair can be present at birth which is later shed between the first few months, after which no further regrowth occurs. There is alopecia of eyebrows, eyelashes, and general body hair.[3]

Congenital atrichia may be associated with papular lesions which is a rare form of autosomal recessive syndrome characterized by numerous, small, horny papules on the face, neck, limbs, and trunk.[4] Other syndromes associated with congenital alopecia are Moynahan's syndrome (mental retardation, epilepsy), Hidrotic ectodermal dysplasia (palmoplantar keratoderma, thickened nails) and aging syndromes.[56] Skin histology shows the total absence of hair follicles or a few scattered miniaturized follicles.[7] The gene for congenital alopecia has been mapped to chromosome 8p.[8] Alopecia universalis and Vitamin D-dependent rickets type II A induced alopecia should be considered in the differential diagnosis.[9]

Situs inversus is seen worldwide with no racial predilection. The prevalence of situs inversus varies among different populations, but is less than 1 in 10,000 people. It is a congenital condition usually inherited as an autosomal recessive or X linked in which the major visceral organs are reversed or mirrored from their normal position. Cardiac malpositions refer to heart that are located abnormally within the thoracic cavity or that are located outside the thoracic cavity. Three major cardiac malpositions occur in the presence of right/left asymmetry: visceroatrial situs inversus with dextrocardia, visceroatrial situs solitus with dextrocardia and visceroatrial situs inversus with levocardia. Mesocardia, a midline heart is sometimes regarded as a fourth malposition. A midline heart with visceroatrial situs inversus can occur with major congenital malformations.[10] Both congenital atrichia and situs inversus with mesocardia are rare conditions. The association of situs inversus and mesocardia with congenital atrichia has not been reported in literature. It is currently not known whether there is underlying genetic cause for the co-existence of these two condition in our patient or it constitutes a coincidence.