Patient Presentation A 50-year-old Caucasian man presented with a 5-year history of gradually progressive pigmentation in the lips and nails. There was no family history of similar lesions or gastrointestinal (GI) polyposis. On review of systems he denied any history of gastrointestinal bleeding. He also denied using any medication during the previous 5 years. On physical examination we observed round, dark-brown macules measuring 1 mm to 5 mm in diameter. They were irregularly distributed on the buccal mucosa, gums, hard palate, and predominantly on the lower lip. Also present were brown longitudinal band-like changes of the nails measuring 1 mm to 4 mm (see photo). There were no lesions on the penis or the anal area. No masses were found on rectal examination. The results of a stool hemoccult test were negative. There was no submandibular, cervical, supraclavicular, axillary, or inguinal adenopathy. Diagnosis: Laugier-Hunziker Syndrome (LHS) About this Condition LHS is an acquired, benign, macular hyperpigmentation of the lips and buccal mucosa. This is a rare disorder of unknown pathogenesis with no malignancies or internal manifestations. It was first reported by Laugier and Hunziker in 1970.1 It begins in the third to fifth decade of life and affects women more often than men. The lesions usually develop in early or middle adult life and consist of slate to dark-brown lenticular or linear macules 2 mm to 5 mm in diameter located on the lips and buccal mucosa, the hard and the soft palate, and occasionally on the gingiva. An additional 60% of patients will have fingernail pigmentation.2 Hutchinson’s sign has been reported in multiple patients with LHS, sometimes on multiple nails of the same patient. Pigment may also involve the lateral nail folds. The genital areas and other areas of the body may be involved with benign hyperpigmentation in LHS.3 Genital melanotic macules have been reported to be clinically and histologically identical to the labial and buccal pigmentation in the LHS. On histology, the oral pigmented macules of LHS demonstrate mild acanthosis with basal cell hypermelanosis. There is no melanocytic proliferation or nest formation. Rete ridges may be normal size or elongated. Numerous melanophages are often present in the papillary dermis. Differential Diagnosis of LHS Before making the diagnosis of Laugier-Hunziker syndrome, consider the following differential diagnoses. Peutz-Jegher’s syndrome (PJS).This disorder consists of periorificial lentiginosis in combination with hamartomatous polyposis, mainly of the gastrointestinal tract, with an increased risk of malignancy. It’s inherited as an autosomal dominant trait, but about 40% of cases may be a result of new mutations. Germline mutations in the LKB1/STK11 gene are considered to cause characteristic freckling and hamartomatous polyps in patients with PSJ.4 The pigmented macules may appear at birth or in childhood and are typically found on the lips and oral mucosa. Similar lesions can be found on the face, dorsa of the hands, feet, umbilicus and perianal area. Associated GI malignancies include adenocarcinomas of the stomach, duodenum, and jejunum with reported cases of leiomyosarcomas. Malignancies of the cervix, ovaries, breasts and testes were also reported in association with PJS. When the diagnosis of PJS is suggested from a positive family history, an upper and lower GI tract endoscopy is recommended every 2 years. Female patients should undergo pelvic examination. Nevertheless, strict guidelines for screening for associated malignancies in patients with PJS have not been established. Cronkhite-Canada syndrome. This condition also presents with adenomatous polyps, which may be present from stomach to rectum and have a malignant potential. Diffuse or patchy alopecia, circumscribed hypermelanosis consisting of lentigo-like macules primarily on extremities, dystrophic nails (thinning, splitting, onycholysis) are common findings associated with this syndrome. NAME or LAMB syndrome. A rare autosomal dominant congenital syndrome with macular pigmentation of the lips and oral mucosa, NAME or LAMB syndrome also involves other systems. LEOPARD or multiple lentigines syndrome. This is also an autosomal dominantly inherited syndrome causing multiple lentigines, café au lait spots as well as café noir spots on the body area, but it usually spares the mucous membranes. Other disorders. Pigmented macules also occur on the lips of patients with neurofibromatosis or Albright syndrome, and on the buccal mucosa as an early sign in Addison’s disease. Lichen planus, other drug-induced pigmentations and cyanocobalamine deficiency may also be considered in the differential diagnosis. Moreover, macular pigmentation of the lips and oral mucosa resembling LHS was reported in a patient receiving polychemotherapy for metastatic ovarian carcinoma. Treating this Condition Treatment is not required because LHS has a benign course. Laser therapy may be an option for cosmetically bothersome melanosis located on the skin. Treatment of the melanosis has been achieved with Q-switched ruby laser.5
What Was the Cause of this Progressive Pigmentation?
Patient Presentation A 50-year-old Caucasian man presented with a 5-year history of gradually progressive pigmentation in the lips and nails. There was no family history of similar lesions or gastrointestinal (GI) polyposis. On review of systems he denied any history of gastrointestinal bleeding. He also denied using any medication during the previous 5 years. On physical examination we observed round, dark-brown macules measuring 1 mm to 5 mm in diameter. They were irregularly distributed on the buccal mucosa, gums, hard palate, and predominantly on the lower lip. Also present were brown longitudinal band-like changes of the nails measuring 1 mm to 4 mm (see photo). There were no lesions on the penis or the anal area. No masses were found on rectal examination. The results of a stool hemoccult test were negative. There was no submandibular, cervical, supraclavicular, axillary, or inguinal adenopathy. Diagnosis: Laugier-Hunziker Syndrome (LHS) About this Condition LHS is an acquired, benign, macular hyperpigmentation of the lips and buccal mucosa. This is a rare disorder of unknown pathogenesis with no malignancies or internal manifestations. It was first reported by Laugier and Hunziker in 1970.1 It begins in the third to fifth decade of life and affects women more often than men. The lesions usually develop in early or middle adult life and consist of slate to dark-brown lenticular or linear macules 2 mm to 5 mm in diameter located on the lips and buccal mucosa, the hard and the soft palate, and occasionally on the gingiva. An additional 60% of patients will have fingernail pigmentation.2 Hutchinson’s sign has been reported in multiple patients with LHS, sometimes on multiple nails of the same patient. Pigment may also involve the lateral nail folds. The genital areas and other areas of the body may be involved with benign hyperpigmentation in LHS.3 Genital melanotic macules have been reported to be clinically and histologically identical to the labial and buccal pigmentation in the LHS. On histology, the oral pigmented macules of LHS demonstrate mild acanthosis with basal cell hypermelanosis. There is no melanocytic proliferation or nest formation. Rete ridges may be normal size or elongated. Numerous melanophages are often present in the papillary dermis. Differential Diagnosis of LHS Before making the diagnosis of Laugier-Hunziker syndrome, consider the following differential diagnoses. Peutz-Jegher’s syndrome (PJS).This disorder consists of periorificial lentiginosis in combination with hamartomatous polyposis, mainly of the gastrointestinal tract, with an increased risk of malignancy. It’s inherited as an autosomal dominant trait, but about 40% of cases may be a result of new mutations. Germline mutations in the LKB1/STK11 gene are considered to cause characteristic freckling and hamartomatous polyps in patients with PSJ.4 The pigmented macules may appear at birth or in childhood and are typically found on the lips and oral mucosa. Similar lesions can be found on the face, dorsa of the hands, feet, umbilicus and perianal area. Associated GI malignancies include adenocarcinomas of the stomach, duodenum, and jejunum with reported cases of leiomyosarcomas. Malignancies of the cervix, ovaries, breasts and testes were also reported in association with PJS. When the diagnosis of PJS is suggested from a positive family history, an upper and lower GI tract endoscopy is recommended every 2 years. Female patients should undergo pelvic examination. Nevertheless, strict guidelines for screening for associated malignancies in patients with PJS have not been established. Cronkhite-Canada syndrome. This condition also presents with adenomatous polyps, which may be present from stomach to rectum and have a malignant potential. Diffuse or patchy alopecia, circumscribed hypermelanosis consisting of lentigo-like macules primarily on extremities, dystrophic nails (thinning, splitting, onycholysis) are common findings associated with this syndrome. NAME or LAMB syndrome. A rare autosomal dominant congenital syndrome with macular pigmentation of the lips and oral mucosa, NAME or LAMB syndrome also involves other systems. LEOPARD or multiple lentigines syndrome. This is also an autosomal dominantly inherited syndrome causing multiple lentigines, café au lait spots as well as café noir spots on the body area, but it usually spares the mucous membranes. Other disorders. Pigmented macules also occur on the lips of patients with neurofibromatosis or Albright syndrome, and on the buccal mucosa as an early sign in Addison’s disease. Lichen planus, other drug-induced pigmentations and cyanocobalamine deficiency may also be considered in the differential diagnosis. Moreover, macular pigmentation of the lips and oral mucosa resembling LHS was reported in a patient receiving polychemotherapy for metastatic ovarian carcinoma. Treating this Condition Treatment is not required because LHS has a benign course. Laser therapy may be an option for cosmetically bothersome melanosis located on the skin. Treatment of the melanosis has been achieved with Q-switched ruby laser.5
Patient Presentation A 50-year-old Caucasian man presented with a 5-year history of gradually progressive pigmentation in the lips and nails. There was no family history of similar lesions or gastrointestinal (GI) polyposis. On review of systems he denied any history of gastrointestinal bleeding. He also denied using any medication during the previous 5 years. On physical examination we observed round, dark-brown macules measuring 1 mm to 5 mm in diameter. They were irregularly distributed on the buccal mucosa, gums, hard palate, and predominantly on the lower lip. Also present were brown longitudinal band-like changes of the nails measuring 1 mm to 4 mm (see photo). There were no lesions on the penis or the anal area. No masses were found on rectal examination. The results of a stool hemoccult test were negative. There was no submandibular, cervical, supraclavicular, axillary, or inguinal adenopathy. Diagnosis: Laugier-Hunziker Syndrome (LHS) About this Condition LHS is an acquired, benign, macular hyperpigmentation of the lips and buccal mucosa. This is a rare disorder of unknown pathogenesis with no malignancies or internal manifestations. It was first reported by Laugier and Hunziker in 1970.1 It begins in the third to fifth decade of life and affects women more often than men. The lesions usually develop in early or middle adult life and consist of slate to dark-brown lenticular or linear macules 2 mm to 5 mm in diameter located on the lips and buccal mucosa, the hard and the soft palate, and occasionally on the gingiva. An additional 60% of patients will have fingernail pigmentation.2 Hutchinson’s sign has been reported in multiple patients with LHS, sometimes on multiple nails of the same patient. Pigment may also involve the lateral nail folds. The genital areas and other areas of the body may be involved with benign hyperpigmentation in LHS.3 Genital melanotic macules have been reported to be clinically and histologically identical to the labial and buccal pigmentation in the LHS. On histology, the oral pigmented macules of LHS demonstrate mild acanthosis with basal cell hypermelanosis. There is no melanocytic proliferation or nest formation. Rete ridges may be normal size or elongated. Numerous melanophages are often present in the papillary dermis. Differential Diagnosis of LHS Before making the diagnosis of Laugier-Hunziker syndrome, consider the following differential diagnoses. Peutz-Jegher’s syndrome (PJS).This disorder consists of periorificial lentiginosis in combination with hamartomatous polyposis, mainly of the gastrointestinal tract, with an increased risk of malignancy. It’s inherited as an autosomal dominant trait, but about 40% of cases may be a result of new mutations. Germline mutations in the LKB1/STK11 gene are considered to cause characteristic freckling and hamartomatous polyps in patients with PSJ.4 The pigmented macules may appear at birth or in childhood and are typically found on the lips and oral mucosa. Similar lesions can be found on the face, dorsa of the hands, feet, umbilicus and perianal area. Associated GI malignancies include adenocarcinomas of the stomach, duodenum, and jejunum with reported cases of leiomyosarcomas. Malignancies of the cervix, ovaries, breasts and testes were also reported in association with PJS. When the diagnosis of PJS is suggested from a positive family history, an upper and lower GI tract endoscopy is recommended every 2 years. Female patients should undergo pelvic examination. Nevertheless, strict guidelines for screening for associated malignancies in patients with PJS have not been established. Cronkhite-Canada syndrome. This condition also presents with adenomatous polyps, which may be present from stomach to rectum and have a malignant potential. Diffuse or patchy alopecia, circumscribed hypermelanosis consisting of lentigo-like macules primarily on extremities, dystrophic nails (thinning, splitting, onycholysis) are common findings associated with this syndrome. NAME or LAMB syndrome. A rare autosomal dominant congenital syndrome with macular pigmentation of the lips and oral mucosa, NAME or LAMB syndrome also involves other systems. LEOPARD or multiple lentigines syndrome. This is also an autosomal dominantly inherited syndrome causing multiple lentigines, café au lait spots as well as café noir spots on the body area, but it usually spares the mucous membranes. Other disorders. Pigmented macules also occur on the lips of patients with neurofibromatosis or Albright syndrome, and on the buccal mucosa as an early sign in Addison’s disease. Lichen planus, other drug-induced pigmentations and cyanocobalamine deficiency may also be considered in the differential diagnosis. Moreover, macular pigmentation of the lips and oral mucosa resembling LHS was reported in a patient receiving polychemotherapy for metastatic ovarian carcinoma. Treating this Condition Treatment is not required because LHS has a benign course. Laser therapy may be an option for cosmetically bothersome melanosis located on the skin. Treatment of the melanosis has been achieved with Q-switched ruby laser.5
