Muirtorre Syndrome And Its Cutaneous Manifestations

■ Syndrome characterized by the development of sebaceous tumors, often multiple (Fig. 14A), and visceral neoplasms

■ Autosomal dominant inheritance

■ Sebaceous tumors vary from just one to more than 100 lesions

■ Cutaneous tumors may precede or follow the manifestation of the visceral cancer (1)

■ Visceral tumors usually of the gastrointestinal tract: polyps of the large bowel and adenocarcinomas

■ Other organs may be involved: larynx, the genito-urinary system, ovary, and uterus

■ Cutaneous sebaceous neoplasms sometimes difficult to classify (Figs. 14B and 15) (1,2)

■ Cystic sebaceous tumors described as marker lesions for the Muir-Torre syndrome (Figs. 14C and D) (2)

■ Sebaceous tumors associated with the syndrome (1,3)

■ Sebaceous adenoma

■ Sebaceous carcinoma

■ Basal cell carcinoma with sebaceous differentiation

References:

1. Misago N, Narisawa Y. Sebaceous neoplasms in Muir-Torre syndrome. Am J Dermatopathol 2000; 22:155-161.

2. Rutten A, Burgdorf W, Hugel H, et al. Cystic sebaceous tumors as marker lesions for the Muir-Torre syndrome: a histopathologic and molecular genetic study. Am J Dermatopathol 1999; 21:405-413.

3. Banse-Kupin L, Morales A, Barlow M. Torre's syndrome: report of two cases and review of the literature. J Am Acad Dermatol 1984; 10:803 -817.

Figure 1 (A) A small (vellous) hair follicle and a sebaceous gland forming a folliculo-sebaceous unit. (B) Large sebaceous gland comprised of a few sebaceous lobules and their sebaceous ducts. (C) A sebaceous lobule with a row of immature sebocytes at the periphery, with dark nuclei and very little cytoplasm, and mature sebocytes in the center. (Inset: Mature sebocytes with scalloped nuclei and vacuolated cytoplasm.) (D) Sebaceous duct with eosinophilic crenulated lining containing sebum formed by a nearby sebaceous lobule.

Figure 1 (A) A small (vellous) hair follicle and a sebaceous gland forming a folliculo-sebaceous unit. (B) Large sebaceous gland comprised of a few sebaceous lobules and their sebaceous ducts. (C) A sebaceous lobule with a row of immature sebocytes at the periphery, with dark nuclei and very little cytoplasm, and mature sebocytes in the center. (Inset: Mature sebocytes with scalloped nuclei and vacuolated cytoplasm.) (D) Sebaceous duct with eosinophilic crenulated lining containing sebum formed by a nearby sebaceous lobule.

(B)

Figure 2 (A) Fordyce's spots as tiny white papules on genital skin. (B) Mucosa with sebaceous lobules unassociated with hair follicles and situated high in the submucosa. (C) Sebaceous lobules with direct opening onto the epidermal surface in a Fordyce's spot. (D) A large sebaceous gland containing a few large sebaceous lobules opening within a dilated sebaceous duct leading to the surface epithelium in a Montgomery's tubercle of the nipple.

Figure 2 (A) Fordyce's spots as tiny white papules on genital skin. (B) Mucosa with sebaceous lobules unassociated with hair follicles and situated high in the submucosa. (C) Sebaceous lobules with direct opening onto the epidermal surface in a Fordyce's spot. (D) A large sebaceous gland containing a few large sebaceous lobules opening within a dilated sebaceous duct leading to the surface epithelium in a Montgomery's tubercle of the nipple.

Figure 3 (A) Nevus sebaceus In a child presenting as a hairless sebaceus raised patch on the scalp. (B) Normal epidermis and mature hair follicles deeply rooted in the subcutis on the right. Slightly hyperplastic epidermis on the left within a lesion of nevus sebaceus in a child with missing mature hair follicles. (C) Acanthotic papillomatous epidermis with hyperkeratosis. Immature hair follicles located superficially in the dermis. (D) Miniature incompletely differentiated hair follicle with small sebaceous glands.

Figure 3 (A) Nevus sebaceus In a child presenting as a hairless sebaceus raised patch on the scalp. (B) Normal epidermis and mature hair follicles deeply rooted in the subcutis on the right. Slightly hyperplastic epidermis on the left within a lesion of nevus sebaceus in a child with missing mature hair follicles. (C) Acanthotic papillomatous epidermis with hyperkeratosis. Immature hair follicles located superficially in the dermis. (D) Miniature incompletely differentiated hair follicle with small sebaceous glands.

Figure 4 (A) Yellow verrucous plaque devoid of hair on the scalp of an adult. (B) Epidermis with marked acanthosis, papillomatosis, and hyperkeratosis. Numerous large sebaceous glands. (C) Increased number of sebaceous glands with direct opening at the epidermal surface. Apocrine glands in the upper dermis marked by an arrow. (D) A normal mature hair follicle on the left next to a small immature one designated by a thick arrow. Apocrine glands underneath (thin arrow).

Figure 4 (A) Yellow verrucous plaque devoid of hair on the scalp of an adult. (B) Epidermis with marked acanthosis, papillomatosis, and hyperkeratosis. Numerous large sebaceous glands. (C) Increased number of sebaceous glands with direct opening at the epidermal surface. Apocrine glands in the upper dermis marked by an arrow. (D) A normal mature hair follicle on the left next to a small immature one designated by a thick arrow. Apocrine glands underneath (thin arrow).

Figure 5 (A) Numerous skin-colored papules and nodules on the back of a patient with steatocystoma multiplex. (B) Cystically dilated space in the dermis with folded wall lined by stratified squamous epithelium. (C) A sebaceous gland (arrow) in the vicinity of the cystic space. (D) Pink irregular layer identical to the lining of a sebaceous duct covers the epithelium.

Figure 5 (A) Numerous skin-colored papules and nodules on the back of a patient with steatocystoma multiplex. (B) Cystically dilated space in the dermis with folded wall lined by stratified squamous epithelium. (C) A sebaceous gland (arrow) in the vicinity of the cystic space. (D) Pink irregular layer identical to the lining of a sebaceous duct covers the epithelium.

Figure 6 (A) Well-circumscribed lesion in the reticular dermis. (B) Markedly dilated infundi-bulum with radiating sebaceous ducts and lobules. (C) Dense fibrous stroma encircles the cystic structure and the folliculo-sebaceous units. (D) Clefts between the stroma and the adjacent dermis.
<S)

Figure 7 (A) Numerous tan to yellowish papules, many of which umbilicated. (B) Dilated follicular infundibulum surrounded by numerous large sebaceous lobules. (C) Enlarged sebaceous gland in close proximity to the epidermis and adjacent to a cystically dilated infundibulum. (D) Large sebaceous lobules with a rim of basaloid cells at the periphery and mature sebocytes in the center are part of the enlarged sebaceous gland.

Figure 7 (A) Numerous tan to yellowish papules, many of which umbilicated. (B) Dilated follicular infundibulum surrounded by numerous large sebaceous lobules. (C) Enlarged sebaceous gland in close proximity to the epidermis and adjacent to a cystically dilated infundibulum. (D) Large sebaceous lobules with a rim of basaloid cells at the periphery and mature sebocytes in the center are part of the enlarged sebaceous gland.

<B)

Figure 8 (A) Small umbilicated, well-circumscribed yellowish nodule on the nose. (B) Well-demarcated exo-endophytic lesion comprised of sebaceous lobules with variation in size and shape. (C) Dilated sebaceous ducts filled with sebum connect the sebaceous lobules to the surface. Sometimes, there is a direct opening of the lobules at the surface. (D) The sebaceous lobules contain mature sebocytes in the center, which predominate, and immature sebocytes at the periphery.

Figure 8 (A) Small umbilicated, well-circumscribed yellowish nodule on the nose. (B) Well-demarcated exo-endophytic lesion comprised of sebaceous lobules with variation in size and shape. (C) Dilated sebaceous ducts filled with sebum connect the sebaceous lobules to the surface. Sometimes, there is a direct opening of the lobules at the surface. (D) The sebaceous lobules contain mature sebocytes in the center, which predominate, and immature sebocytes at the periphery.

Figure 9 (A) Sharply circumscribed sebaceous adenoma containing sebaceous lobules of varying size and shape. (B) Some sebaceous lobules are vertically oriented and some have piriform shape. (C) Many lobules open directly at the epidermal surface. (D) Large dilated sebaceous ducts connect the sebaceous lobules to the surface.

Figure 9 (A) Sharply circumscribed sebaceous adenoma containing sebaceous lobules of varying size and shape. (B) Some sebaceous lobules are vertically oriented and some have piriform shape. (C) Many lobules open directly at the epidermal surface. (D) Large dilated sebaceous ducts connect the sebaceous lobules to the surface.

Figure 10 (A) Small relatively well-circumscribed umbilicated yellowish nodule. (B) Slightly asymmetrical but well-demarcated lesion with smooth borders containing sebaceous aggregates with variation in size and shape. (C) Basaloid undifferentiated sebocytes are admixed with single or small clusters of mature vacuolated sebocytes. (D) Sebaceous ducts (arrows) with pink cuticle-like lining present within this aggregate.

Figure 10 (A) Small relatively well-circumscribed umbilicated yellowish nodule. (B) Slightly asymmetrical but well-demarcated lesion with smooth borders containing sebaceous aggregates with variation in size and shape. (C) Basaloid undifferentiated sebocytes are admixed with single or small clusters of mature vacuolated sebocytes. (D) Sebaceous ducts (arrows) with pink cuticle-like lining present within this aggregate.

Figure 11 (A) Asymmetrical neoplasm showing good circumscription and ulcerated surface covered with a scale-crust. Marked variation in size and shape of aggregations. (B) A sebaceous lobule primarily comprised of small basaloid sebocytes with scant cytoplasm. Only rare mature sebocytes are spotted (arrow). (C) Highly cellular sebaceous lobules containing immature sebocytes that are monomorphous. (D) Numerous but not atypical mitotic figures.

Figure 11 (A) Asymmetrical neoplasm showing good circumscription and ulcerated surface covered with a scale-crust. Marked variation in size and shape of aggregations. (B) A sebaceous lobule primarily comprised of small basaloid sebocytes with scant cytoplasm. Only rare mature sebocytes are spotted (arrow). (C) Highly cellular sebaceous lobules containing immature sebocytes that are monomorphous. (D) Numerous but not atypical mitotic figures.

Figure 12 (A) Round but slightly asymmetric yellowish nodule. (B) Asymmetric cystic neoplasm comprised of large irregular aggregates and central necrosis.

(C) Crowded-together neoplastic sebocytes with high nuclear-to-cytoplasmic ratio and some in mitosis (thick arrows). Occasional mature sebocytes are present (thin arrow).

(D) Markedly pleomorphic neoplastic cells, some with large hyperchromatic irregular nuclei and vacuolated cytoplasm.

Figure 12 (A) Round but slightly asymmetric yellowish nodule. (B) Asymmetric cystic neoplasm comprised of large irregular aggregates and central necrosis.

(C) Crowded-together neoplastic sebocytes with high nuclear-to-cytoplasmic ratio and some in mitosis (thick arrows). Occasional mature sebocytes are present (thin arrow).

(D) Markedly pleomorphic neoplastic cells, some with large hyperchromatic irregular nuclei and vacuolated cytoplasm.

Figure 13 (A) Irregular neoplastic aggregates with different shapes in the reticular dermis. (B) A mixture of neoplastic sebocytes, majority of which with high nuclear-to-cytoplasmic ratio. Numerous mitotic figures. (C) Variation in size and shape of neoplastic sebocytes with different degree of differentiation. (D) Large neoplastic cell with hyperchromatic nucleus and prominent nucleolus in the center of an aggregate comprised mostly of immature sebocytes.

Figure 13 (A) Irregular neoplastic aggregates with different shapes in the reticular dermis. (B) A mixture of neoplastic sebocytes, majority of which with high nuclear-to-cytoplasmic ratio. Numerous mitotic figures. (C) Variation in size and shape of neoplastic sebocytes with different degree of differentiation. (D) Large neoplastic cell with hyperchromatic nucleus and prominent nucleolus in the center of an aggregate comprised mostly of immature sebocytes.

Figure 14 (A) Three small umblllcated yellow nodules on the face of a patient with Muir-Torre syndrome. (B) A well-demarcated benign sebaceous neoplasm with keratoacanthoma-like architecture and central crater. (C) A cystic benign sebaceous neoplasm with irregular sebaceous lobules lining a cystic cavity filled with sebum and cellular debris. (D) Mature sebocytes admixed with immature ones within a neoplastic aggregation.

Figure 14 (A) Three small umblllcated yellow nodules on the face of a patient with Muir-Torre syndrome. (B) A well-demarcated benign sebaceous neoplasm with keratoacanthoma-like architecture and central crater. (C) A cystic benign sebaceous neoplasm with irregular sebaceous lobules lining a cystic cavity filled with sebum and cellular debris. (D) Mature sebocytes admixed with immature ones within a neoplastic aggregation.

(B)

Figure 15 (A) Vertically oriented sebaceous neoplasm that is difficult to classify precisely. (B) Irregular, vertically oriented sebaceous lobules containing mature and immature sebocytes. (C) Asymmetrical but well-circumscribed endophytic sebaceous neoplasm containing sebaceous lobules of different sizes and shapes. (D) Mature sebocytes outnumber the immature ones that are seen only at the periphery of the lobules. Large sebaceous ducts join together and lead to the skin surface.

Figure 15 (A) Vertically oriented sebaceous neoplasm that is difficult to classify precisely. (B) Irregular, vertically oriented sebaceous lobules containing mature and immature sebocytes. (C) Asymmetrical but well-circumscribed endophytic sebaceous neoplasm containing sebaceous lobules of different sizes and shapes. (D) Mature sebocytes outnumber the immature ones that are seen only at the periphery of the lobules. Large sebaceous ducts join together and lead to the skin surface.

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