Alopecia Universalis in Polyglandular Autoimmune Syndrome Type I

Sir,

A 48-year-old married woman presented with nausea, vomiting, abdominal pain and generalized weakness. She also complained of skin pigmentation and whitish lesions in the oral cavity since 2 months for which she was referred to our department. She was a known case of diabetes mellitus type 1, on medications and had generalized hair loss since 15 years. There was no history of seizures, dental dystrophy, keratopathy and dystrophy of nails. There were no similar complaints in other family members.

Dermatological examination revealed dry skin with increased facial pigmentation. There was absence of hair over the scalp, eyebrows, eyelashes, armpits and suprapubic region [Figures 1 and 2]. Oral examination revealed a curdy white plaque with a pseudomembrane over the tongue and buccal mucosa (suggestive of candidiasis). General and systemic examination showed no abnormality.

Figure 1.

Facial pigmentation and absence of hair over eyebrows

Figure 2.

Absence of hair over the scalp

Further enquiry and examination of her medical records revealed, she was a known case of polyglandular autoimmune syndrome-1 (PGA-1) with features of Addison's disease, hypoparathyrodism and type 1 diabetes mellitus.

Complete hemogram was within the normal limits. Blood sugar fasting level was 220 mg/dL and postprandial was 285 mg/dL. Tests for Serum calcium and phosphorus showed a value of 7 mg/dL and 13 mg/dL respectively. Level of ionized calcium was also reduced to 1 mmol/L. An 8 am plasma cortisol level was <1 μg/dL. Ultrasonography of the abdomen revealed no abnormality.

A diagnosis of PGA-1 with oral candidiasis and alopecia universalis was then made. Antifungal treatment was given for candidiasis and the patient was referred back to the endocrinologist for further management.

PGA syndromes are a group of rare disorders characterized by presence of two or more endocrinal insufficiencies. The defect lies in the monogenic mutation of autoimmune regulator gene which maps on chromosome 21q22.3. It includes (a) failure of parathyroid glands, adrenal cortex, gonads, pancreatic beta cells, gastric parietal cells and thyroid gland (b) chronic mucocutaneous candidiasis (c) dystrophy of dental enamel, nails, alopecia, vitiligo, keratopathy and calcification of tympanic membrane.[1]

Female preponderance is seen with a female to male ratio ranging from 0.8:1 to 2.4:1.[2] The PGA-1 syndrome presents in early childhood in contrast to our patient who presented in adulthood. Our patient presented with Addison's disease, oral candidiasis and hyperparathyroidism, all the three classical findings of PGA-1.

Candidiasis is generally limited and is not more than 5% of the skin surface.[3] In cases of PGA-1 alopecia has increasing prevalence in the middle age, it may present as transient patches of hair loss,[4,5] whereas our patient presented with alopecia universalis.

The prognosis of the patient is poor as there is no specific treatment modality available for PGA-1. Treatment is mainly symptomatic.[5]

Alopecia universalis occurring with PGA-1 is extremely rare. Only 10 cases have been reported in literature and no case reported from India.