Ann Dermatol.  2019 Jun;31(3):325-330. 10.5021/ad.2019.31.3.325.

Cowden Disease: Case Report and Review of the Literature

• Son JH
• Chung BY
• Jung MJ
• Choi YW
• Kim HO
• Park CW

• KMID: 2444866
• DOI: http://doi.org/10.5021/ad.2019.31.3.325

Abstract

Cowden's disease is a rare autosomal dominant, multiple hamartoma syndrome with characteristic mucocutaneous lesions. It is associated with abnormalities of the breast, thyroid, and gastrointestinal tract; and is characterized by multiple hamartomas in the gastrointestinal tract and mucocutaneous lesions such as trichilemmomas, oral papillomatosis, facial papules, and acral keratosis. A 21-year-old male patient presented with erythematous facial papules, oral mucosal papillomatosis, and punctate palmoplantar hyperkeratosis indicating a definite case of Cowden's disease. This disease derives from variable expression resulting from a mutation in the PTEN gene. Gastrointestinal endoscopy and colonoscopy revealed multiple hamartomas in the stomach and colon. On thyroid ultrasonography, several probable benign nodules were noted in the right thyroid gland. He had no pertinent family history and no other systemic findings. Further regular laboratory and image studies will be planned for our patient, as well as his family members. Sporadic Cowden's disease is rarely observed. Herein, we report a case of Cowden's disease without known family history. Dermatologists should be aware of the possibility of Cowden syndrome based on its several dermatologic findings.

Keyword

Hamartoma syndrome; multiple; PTEN phosphohydrolase; Skin neoplasm

MeSH Terms

Breast
Colon
Colonoscopy
Endoscopy, Gastrointestinal
Gastrointestinal Tract
Hamartoma
Hamartoma Syndrome, Multiple*
Humans
Keratosis
Male
Papilloma
PTEN Phosphohydrolase
Skin Neoplasms
Stomach
Thyroid Gland
Ultrasonography
Young Adult
PTEN Phosphohydrolase

Figure

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  Fig. 1 Clinical images of the 21-year-old patient. Multiple punctate hyperkeratotic macules are localized on both (A) palms and both (B) soles (black arrows). Multiple skincolored papules are observed on his (C) nose (black circle). On his (D) tongue and oral mucosa, several erythematous papules are found resembling cobblestones or fibroma-like polyps (black arrows).

• 

  Fig. 2 (A) Endoscopic photograph showing multiple hamartomas papillomatosis in the duodenum and stomach, and esophageal keratosis like nodular lesions in the esophagus. (B) By biopsy of the gastric lesion and polypectomy, histopathology of a gastric polyp reveals a hyperplastic and inflammatory polyp with prominent reactive lymphoid follicle (H&E; ×40, ×100). (C) Colonoscopy shows several small polyps. (D) Histopathology of a colorectal polyp shows it to be inflammatory (H&E; ×40, ×100).

• 

  Fig. 3 (A) Hematoxylin and eosin (H&E) stained specimen from palm shows a large hyperkeratotic mount with thickened granular layer. Typical histologic backgrounds of palmoplantar keratosis, including marked hyperkeratosis and epidermal proliferation, are noted (H&E, ×40). (B) Epidermal hyperplasia with hypergranulosis, a thin layer of parakeratosis, and overlying orthokeratosis can be observed. Slightly dilated blood vessels in the papillary dermis and a sparse infiltrate of lymphocytes are noted (H&E, ×100). (C, D) A specimen from forehead shows plugging of the hair follicle by keratin with typical histologic backgrounds of acne including perifollicular lymphocyte infiltration (H&E; C: ×40, D: ×100).

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  Fig. 4 The small bowel series shows (A) Filling defect lesion on the junction of duodenum 2nd and 3rd portion (2 cm long). (B) No other specific filling defect can be observed in the small bowel loops, especially on the terminal ileum.

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