Diffuse congenital alopecia areata in the setting of situs inversus and primary ciliary dyskinesia – Drexel – May 16, 2016

Presented by: Jeanyoung Kim, MD and Carrie Ann Cusack, MD

Drexel University College of Medicine

May 16, 2016

Situs inversus is a congenital condition in which the internal organs are reversed or mirrored from their normal anatomical locations. It is present in 0.1% of the population and is often undiagnosed due to its asymptomatic nature. Approximately 25% of patients with situs inversus have primary ciliary dyskinesia (PCD), a heterogeneous disorder affecting the genes DNAI1 and DNAH5, which code for proteins found in cilia of the respiratory tract, fallopian tubes and flagella of sperm. Kartagener syndrome is characterized by the triad of situs inversus, chronic sinusitis and bronchiectasis.

PCD can present with recurrent sinus and ear infections, lung effusions, persistent cough and pneumonia. Other findings may include asplenia or polysplenia. Although situs inversus has been reported in association with congenital atrichia, a rare form of irreversible complete alopecia, other forms of alopecia such as alopecia areata (AA) have not been well documented.

Congenital AA, or AA in newborns and young infants, is an under-recognized diagnosis. Although AA in children has been reported to occur in 20-25% of patients, onset before the age of two years is estimated to occur in only 1-2% of patients with AA. Lenane et al reported four cases of congenital AA. All patients had alopecia at birth and were diagnosed clinically. Treatments included minoxidil 2%, hydrocortisone 1%, betamethasone valerate 0.05%, fluocinonide 0.05% and clobetasol propionate 0.05%. The best regrowth observed resulted from the use of clobetasol propionate 0.05%.

Congenital AA can be a difficult diagnosis to make. Often the areas of hair loss are overlooked or considered to be a normal variant by the parents and physician. The differential diagnosis includes telogen effluvium, tinea capitis, traction alopecia, trauma and friction-related alopecia. Two rare conditions to consider are atrichia with papular lesions and vitamin D-resistant rickets.

The use of dermoscopy can greatly assist the clinician in determining the cause of alopecia when it is not readily apparent. A review by Tosti et al described several well-defined dermoscopic features of AA including yellow dots, black dots, broken hairs, clustered short vellus hairs, and tapering hairs. A pathognomic finding is exclamation mark hairs (or tapering hairs) which are mainly found at the periphery of the lesions.

Inui et al demonstrated that black dots, yellow dots and short vellus hairs correlated with disease severity, whereas black dots, tapering hairs, broken hairs and short vellus hairs correlated with disease activity. For diagnosis, yellow dots and short vellus hairs were the most sensitive markers, whereas black dots, tapering hairs and broken hairs were the most specific markers.

. overlapping features of SLE and KFD it is imperative to take a thorough history and physical exam and do a serologic workup. Positive ANA and other immunologic studies diagnostic of SLE warrants lupus-targeted therapies including hydroxychloroquine which remains the gold standard first-line therapy.

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