Chronic candidiasis, enamel hypoplasia, and pigmentary anomalies

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  • Chronic candidiasis, enamel hypoplasia, and pigmentary anomalies Stephen R. Porter, BSc, PhD, MB, ChB, FDS, RCS, RCSE, Sandip Haria, BDS, MSc, Crispian Scully, PhD, MD, AIDS, FDSRCPS, FFDRCSI, MRCPath, and Andrea Richards, MSc, FDSRCS, Bristol, England

    CENTRE FOR THE STUDY OF ORAL DISEASE, BRISTOL DENTAL HOSPITAL AND SCHOOL

    This report describes a young male patient who had enamel hypoplasia, persistent oral candidiasis, skin hyperpigmentation, and vitiligo, and was thus suspected of having candidiasis endocrinopathy syndrome. The clinical and laboratory investigations employed to confirm the diagnosis are detailed. (ORAL SURG ORAL MED ORAL PATHOL 1992;74:312-4)

    C hronic mucocutaneous candidiasis (CMC) is the term given to a group of rare disorders in which there is persistent candidiasis of the mouth, skin, and nail beds (Table I).- The present report describes the clinical features of a patient with a variant of CMC and details the clinical diagnosis and problems of confirmatory investigations.

    CASEREPORT

    A 17-year-old boy who had been attending the hospital since early childhood for routine dental care was referred to the Centre for Study of Oral Disease, for persistent oral white lesions. The patient had had oral thrush for 10 months, which had failed to respond to topical nystatin. The patient also admitted a 2-year history of decline in general health, with increasing weakness, tiredness, and progressive weight loss. For the previous 2 months he had had postural dizziness.

    The medical history was apparently otherwise clear, al- though the patient had had enamel hypoplasia affecting the crowns of the following teeth:

    The hypoplasia of all the first permanent molars had been so extensive as to warrant their extraction at 8 years of age. The cause of the enamel hypoplasia was never established, but a systemic chronologic type of hypoplasia was sug- gested. The patient had no family history of dental hy- poplasia.

    Table I. Classification of CMC*

    Type Inheritance Principal features

    Early-onset CMC Autosomal recessive

    Diffuse CMC Autosomal recessive or sporadic

    Candidiasis Autosomal endocrinopathy recessive syndrome or sporadic

    Late-onset CMC Sporadic

    Oral candidiasis, mild cutaneous involve- ment, occasional iron deficiency

    Severe oral candidiasis, severe cutaneous in- volvement including granuloma formation, candidal blepharitis, pharyngitis and lar- yngitis, occasional bacterial and viral infections, high prev- alence of iron defi- ciency

    Mild to severe oral and cutaneous candidia- sis, hypoparathy- roidism, Addisons disease, autoimmune thyroid disease, dia- betes mellitus, viti- ligo, other autoim- mune disorders, enamel hypoplasia

    Mild mucosal and cuta- neous candidal in- fection, thymoma, myasthenia gravis, polymyositis, hypo- gammaglobulinemia, bone marrow changes

    7/13/34570 *Not including CMC associated with primary immunodeficiencies.

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  • Volume 74 Number 3

    Candidiasis, hypoplasia, pigmentary anomalies 313

    Fig. 1. Vitiligo and hyperpigmentation on face.

    On general examination the patient was thin with obvi- ous vitiligo and background hyperpigmentation on the forehead (Fig. l), trunk, and abdomen, suggestive of Add- isons disease. Indeed, the blood pressure at sitting was low (95/55 mm Hg), further suggesting Addisons disease. Leukonychia affected the big toenails of both feet, and a dermatophyte infection of the lateral aspect of the left foot was present. No cervical or submandibular lymphadenop- athy was present.

    The lower lip was slightly swollen and there was bilateral angular stomatitis. Intraorally, extensive adherent homo- geneous white plaques affected the buccal mucosae (Fig. 2) dorsum of tongue, and the lower labial mucosa. The mucosa of the palate was covered with an adherent speckled white and red lesion. Enamel hypoplasia was noted on the follow- ing teeth:

    5 + 21 123

    there were veneers on the labial surfaces of the maxillary incisors and canines. There was no intraoral hyperpigmen- tation or vitiligo.

    In view of the presence of the adherent intraoral white plaques, angular stomatitis, and leukonychia, a diagnosis of CMC was considered. In particular, candidiasis endocrin- opathy syndrome (CES), a variant of CMC, was believed likely in view of the presence of the enamel hypoplasia (possibly due to hypoparathyroidism), vitiligo, and possible Addisons disease as suggested by the hypotension, weight loss, hyperpigmentation, and weakness.

    The patient was given a short adrenocorticotropin (Syn- acthen) test (250 pg intramuscularly), to which he failed to

    Fig. 2. Chronic candidal infection of buccal mucosa in CES.

    respond. He was also found to be hyponatremic (sodium level 126 mmol/L), hyperkalemic (potassium level 5.2 mmol/L), hypocalcemic (calcium level 1.62 mmol/L), and hypoglycemic (glucose level 3.6 mmol/L), confirming the initial diagnosis of adrenocortical hypofunction and possi- ble hypoparathyroidism. Biopsy tissue from the buccal white lesion confirmed chronic hyperplastic candidiasis, and low serum levels of parathyroid hormone confirmed the hy- poparathyroidism and thus the diagnosis of CES. There was no evidence of HIV infection.

    The patient was therefore treated with adrenocorti- cotrophic hormone, dexamethasone, and fludrocortisone, has responded well, and is currently receiving maintenance therapy of hydrocortisone, fludrocortisone, and 1 cu-chole- calciferol (vitamin Ds supplement). The oral candidiasis has cleared in response to nystatin and miconazole gel.

    DISCUSSION

    This report is of particular interest because the pa- tient had had clinical features highly suggestive of CES that had remained undiagnosed for several years. This demonstrates the clear importance of carefully checking the medical history and noting any relevant extraoral features.

    CES is characterized by chronic candidal infection of the mucosae and occasionally the skin, together with type I polyglandular autoimmune endocrinopa- thy. Chronic candidal infection of the mouth is often the initial presenting feature, and endocrinopathies may not manifest for another 10 to 15 years; occa- sionally, however, the sequence is reversed.*-t2 Our patient may have had mild hypoparathyroidism in early childhood, as demonstrated by the enamel hy- poplasia,13-17 but there appears to have been a rapid onset of Addisons disease, vitiligo, dermatophyte in-

  • 314 Porter et al. ORAL SURG ORAL MED ORAL PATHOI. September 1992

    fection,18 and oral and cutaneous candidiasis in early adulthood. The precise reason for this subsequent on- set of autoimmune phenomena and candidal infection is not known, but defective cell-mediated immunity or immunoregulation seems likely. l9

    Simple clinical and laboratory investigations helped confirm the diagnosis of adrenocortical hypofunction (e.g., low blood pressure, hyperkalcemia, hypona- tremia, and reduced response to adrenocorticotro- pin20) and chronic candidal infection (biopsy). How- ever, it is important to note that in our patient these investigations were carried out in reverse, with the bi- opsy being carried out before any results of serum biochemistry were known or before the adrenocorti- cotropin test was performed, and furthermore, despite published guidelines21y 22 a corticosteroid cover of only 100 mg hydrocortisone was given, which resulted in the development of an adrenal crisis. Fortunately the patient made a good recovery and is now receiv- ing maintenance therapy of corticosteroids and vita- min D3. Interestingly, his candidiasis has responded to remarkably simple antifungal therapy, an uncommon feature of CES.19

    This case underlines the fact that even rare disor- ders can be diagnosed by carefully taking a medical history and by performing an adequate clinical ex- amination.

    We thank Mrs. Kath Parkes for her patience in the effi- cient processing of this manuscript.

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    3. Edwards JE, Lehrer RI, Stiehm ER, Fischer TJ, Young LS. Severe candidal infections. Ann Intern Med 1978:89:91-106.

    4. Dwyer JM. Chronic mucocutaneous candidiasis: Ann Rev Med 1981;32:491-7.

    5. Jorizzo JL. Chronic mucocutaneous candidosis: an update. Arch Dermatol 1982;!18:963-5.

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