(Last Updated On: October 29, 2018)

Authors: Patricia A. Nacianceno, Eileen Liesl A Cubillan, Marie Eleanore O. Nicolas

Abstract

Introduction: Chronic mucocutaneous candidiasis (CMCC), manifested by patients with T-cell deficiencies, is characterized by recurrent, progressive infections of the skin, nails and mucous membranes.  It may be part of a syndrome, APECED, when co-existent with multiple endocrinopathies. We report a case of a 7-year old girl with CMCC, hypoparathyroidism and sublinical hypothyroidism.

Case summary:  A 7-year old Filipina presented with a 5-year history of recurrent erythematous plaques with thick, yellow-brown scaling and crusting on the periungual areas leading to nail dystrophy and palmar keratoderma. Similar lesions were also noted on the scalp with associated alopecia, face and feet.  There were multiple erythematous annular plaques with white scaling on the back and extremities and whitish plaques on the oral mucosa. No family members had a similar condition and no known history of endocrine problems.  Specimens taken for KOH from the hair, palm and back were positive for hyphal elements.  Fungal culture from the palm and scalp yielded positive growths of Candida spp. She had high levels of thyroid stimulating hormone and normal free T4 levels.  She also had low intact parathyroid levels with low levels of ionized calcium.  We diagnosed the patient with autoimmune polyendocrinopathy (hyperparathyroidism, subclinical hypothyroidism) – candidiasis – ectodermal dystrophy (APECED) syndrome.  She was started on Fluconazole daily with marked improvement of lesions.  Referrals were also made to pediatric endocrinology to co-manage the polyendocrinopathies.

Conclusion: APECED is an autosomal recessive condition not commonly seen in Asian descent. We report a rare case of APECED in a Filipina girl.

 

Citation

 

Keywords

chronic mucocutaneous candidiasis, APECED, autoimmune polyendocrinopathy

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