INTRODUCTION Peutz-Jeghers syndrome (PJS) is a rare disorder characterized by mucocutaneous perioral pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk of malignancy. Families with PJS may show a variable spectrum of manifestations in spite of their consecutive generations. A probable explanation is novel mutations in contributing genes. CASE PRESENTATION This repor...

McCune-Albright syndrome (MAS) is a rare disorder that develops from an activating mutation in the Gs gene. It is characterized by an association with Polyostotic fibrous dysplasia, and precocious puberty, Caf-au-lait pigmentation, and other endocrinopathies that result from the hyperactivity of a variety of endocrine glands. Recently we encountered a patient with MAS with fibrous dysplasia, sk...

Laugier-Hunziker syndrome is a rare idiopathic acquired hyperpigmentation of oral mucosa and lips which is often associated with longitudinal melanonychia. This condition is known to be an entirely benign disease with no systemic manifestations. Herein we report a case of a 54-year-old woman presenting with a 7-year history of asymptomatic oral pigmentation and linear pigmented streaks of sever...

Carney complex is a multiple neoplasia syndrome, inherited in an autosomal dominant manner, that is characterized by lentigines, cardiac myxoma, and numerous endocrine and other tumors, including primary pigmented nodular adrenocortical disease. Here, we describe a typical case of Carney complex in a 27-year-old female who exhibited spotty skin pigmentation on the lips, oral mucosa, fingers, an...

Laugier-Hunziker syndrome (LHS) is a rare condition characterized by acquired hyperpigmentation involving the lips, oral mucosa, acral surfaces, nails and perineum. While patients with LHS may manifest pigmentation in all of the aforementioned areas, most present with pigmentation localized to only a few of these anatomical sites. We herein report a patient exhibiting the characteristic pigment...

Macular amyloidosis is a major cause of skin pigmentation and a rare form of localized primary cutaneous amyloidosis in western countries, with a higher prevalence in Asia and South America. The etiopathogenesis of macular amyloidosis has not yet been fully clarified; a number of risk factors are involved, among them chronic friction in particular. A 54-year-old patient with macular amyloidosis...

Bronchial anthracosis was recently defined in the English radiology literature as a luminal narrowing associated with anthracotic pigmentation on bronchoscopy without a relevant history of pneumoconiosis or smoking. Anthracosis refers to the presence of carbon particles in the lungs, not to a disorder per se. Anthracofibrotic lesions carry the potential risk of massive hemorrhage during endobro...

Vitiligo is a common chronic acquired pigmentation disorder characterized by loss of functional melanocytes from the epidermis and follicular reservoir. Among multiple hypotheses which have been proposed in the pathogenesis of vitiligo, autoimmunity and oxidative stress-mediated toxicity in melanocytes remain most widely accepted. Macroautophagy is a lysosome-dependent degradation pathway which...

Alkaptonuria is a rare metabolic disorder characterized by a deficiency of the homogentisic acid oxidase enzyme. The result is accumulation of homogentisic acid in collagenous structures throughout the body, especially in fibrous and cartilaginous tissue. This leads to gradual development of a phenomenon known as ochronosis. Characteristic features of ochronosis are urine darkening, progressive...

Peutz-Jegher syndrome (PJS) is a rare, autosomal-dominant disorder characterized by hamartomatous polyps in any part of the alimentary tract, and almost always associated with intestinal polyposis and mucocutaneous pigmentation (1). Rarely, solitary PJP arise inpatients without other features of PJS. A review of the English literature revealed only 6 published cases since 1989. Here, we would l...