Oral mucosal hyperpigmentation

A 33-year-old man with a 15-year history of salt cravings and recurrent vasovagal syncope presented to the dermatology department with asymptomatic brown patches on the buccal mucosa (Fig 1) and tanning of his facial skin that developed over the past 4 winter months. He is a life-long nonsmoker. His only oral medication was fluoxetine. He lacked involvement of the genitals, hands, feet, or nails. He denied a family history of similar pigmentation. After diagnostic confirmation, he was started on appropriate therapy with complete resolution of mucosal hyperpigmentation (Fig 2).Fig 2View Large Image Figure ViewerDownload Hi-res image Download (PPT) Question 1: Based on his clinical presentation, what is the most likely diagnosis?A.Laugier-Hunziker syndromeB.HemochromatosisC.Peutz-Jeghers syndromeD.Addison's diseaseE.Cronkhite-Canada syndrome Answers:A.Laugier-Hunziker syndrome – Incorrect. Laugier-Hunziker syndrome is characterized by the combination of oral mucosal hyperpigmentation and melanonychia in 50% to 60% of cases.1Sachdeva S. Sachdeva S. Kapoor P. Laugier-hunziker syndrome: a rare cause of oral and acral pigmentation.J Cutan Aesthet Surg. 2011; 4: 58-60Crossref PubMed Google Scholar Our patient lacked nail involvement.B.Hemochromatosis – Incorrect. Hemochromatosis can present with bronzing of the skin, but this usually occurs late in the disease course. The oral mucosa is rarely involved.C.Peutz-Jeghers syndrome – Incorrect. In Peutz-Jeghers syndrome, the mucocutaneous pigmentation usually involves the palms, soles, and genitals in addition to the perioral region and buccal mucosa. The pigmentation frequently appears within the first few years of life.2Utsunomiya J. Gocho H. Miyanaga T. Hamaguchi E. Kashimure A. Peutz-Jeghers syndrome: its natural course and management.Johns Hopkins Med J. 1975; 136: 71-82PubMed Google ScholarD.Addison's disease – Correct. Patients with primary adrenal insufficiency can develop brown hyperpigmentation in chronically sun-exposed areas, in regions of friction or pressure, surrounding scar tissue, and along the buccal mucosa. These patients also have systemic symptoms including volume depletion, orthostatic hypotension, fatigue, nausea, diarrhea, abdominal pain, hyponatremia, and hyperkalemia.3Dunlop D. Eighty-six cases of Addison's disease.Br Med J. 1963; 2: 887-891Crossref PubMed Scopus (152) Google Scholar The pigmentation seen on the buccal mucosa in Addison's disease is patchy and diffuse, in contrast to the discrete 1- to 5-mm brown or black macules involving the lips and buccal mucosa seen in Laugier-Hunziker and Peutz-Jeghers syndromes.E.Cronkhite-Canada syndrome – Incorrect. Cronkhite-Canada syndrome is characterized by gastrointestinal polyposis with alopecia, onychodystrophy, and hyperpigmented macules on the face and extremities. Question 2: What is the next most appropriate test for diagnostic confirmation?A.Complete blood count (CBC) and iron studiesB.ColonoscopyC.AM cortisolD.Serum homogentisic acidE.Late-night salivary cortisol Answers:A.CBC and iron studies – Incorrect. CBC and iron studies would be helpful to evaluate a case of suspected hemochromatosis, which is characterized by a normal CBC with an elevated ferritin and transferrin saturation. A diagnosis of hemochromatosis could be confirmed by screening for HFE gene mutations.B.Colonoscopy – Incorrect. With a suspected diagnosis of Peutz-Jeghers or Cronkhite-Canada syndrome, colonoscopy would be an appropriate test. Both syndromes are associated with the development of numerous hamartomatous polyps in the gastrointestinal tract.C.AM Cortisol – Correct. Individuals with Addison's disease have low morning serum cortisol concentrations. In response to this decreased endogenous cortisol production, the pituitary increases systemic production of adrenocorticotropic hormone (ACTH). The precursor to ACTH is pro-opiomelanocortin, which is also a precursor for melanocyte-stimulating hormone (MSH). The combination of increased ACTH and MSH results in stimulation of melanocytes and hyperpigmentation.4Alawi F. Pigmented lesions of the oral cavity: an update.Dent Clin North Am. 2013; 57: 699-710Abstract Full Text Full Text PDF PubMed Scopus (45) Google ScholarD.Serum homogentisic acid – Incorrect. Serum homogentisic acid is elevated in alkaptonuria, an inherited deficiency of tyrosine degradation. Although alkaptonuria can present with brown-blue discoloration of the ear cartilage, it does not usually present with buccal hyperpigmentation.E.Late-night salivary cortisol – Incorrect. Late-night salivary cortisol, performed close to midnight, is an initial test for hypercortisolism or Cushing syndrome. Physiologic cortisol levels nadir near midnight; therefore, high cortisol levels indicate pathologic hypercortisolism. Question 3: What histologic findings would be seen on biopsy?A.Discrete nests of melanocytes at the dermoepidermal junctionB.Superficial dermal, yellow-brown nonrefractile coarsely granular pigment depositionC.Basal melanin hyperpigmentation with superficial dermal melanophagesD.Spongiotic epithelium with dendritic, pigmented melanocytes through its full thicknessE.Iron deposition in salivary glands Answers:A.Discrete nests of melanocytes at the dermoepidermal junction – Incorrect. Junctional nevi present with melanocytic nests.B.Superficial dermal, yellow-brown nonrefractile coarsely granular pigment deposition – Incorrect. Hydroxychloroquine-induced hyperpigmentation shows superficial dermal pigment deposition highlighted by Perls and Fontana-Masson stains suggestive of the presence of both iron and melanin.5Jallouli M. Frances C. Piette J.C. et al.Hydroxychloroquine-induced pigmentation in patients with systemic lupus erythematosus: a case-control study.JAMA Dermatol. 2013; 149: 935-940Crossref PubMed Scopus (76) Google ScholarC.Basal melanin hyperpigmentation with superficial dermal melanophages – Correct. Increased levels of MSH and ACTH trigger basal melanin hyperpigmentation in Addison's disease.4Alawi F. Pigmented lesions of the oral cavity: an update.Dent Clin North Am. 2013; 57: 699-710Abstract Full Text Full Text PDF PubMed Scopus (45) Google ScholarD.Spongiotic epithelium with dendritic, pigmented melanocytes through its full thickness – Incorrect. Melanoacanthoma is a self-limited, rapidly enlarging, hyperpigmented buccal mucosal lesion characterized by these histologic findings.5Jallouli M. Frances C. Piette J.C. et al.Hydroxychloroquine-induced pigmentation in patients with systemic lupus erythematosus: a case-control study.JAMA Dermatol. 2013; 149: 935-940Crossref PubMed Scopus (76) Google ScholarE.Iron deposition in salivary glands – Incorrect. Iron deposition in salivary glands, within the vascular and adnexal structure basement membranes, and in the dermis is characteristic of hemochromatosis.

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