Papules on girl with Down syndrome - Clinical Advisor

Papules on girl with Down syndrome

Slideshow

  • December 2014 Dermatology Clinic

A 14-year-old girl came into the clinic with an eruption of skin-colored to red-brown papules on her neck and chest that had been present for months. The lesions were usually asymptomatic, but the girl did complain of occasional pruritus. She denied tenderness to palpation. A review of systems was negative for fever or chills.

The patient’s medical history was significant for Down syndrome but negative for diabetes. She was not taking any medications. Her social history was noncontributory. The physical examination was notable for many 6- to 7-mm firm papules on the anterior neck and chest that varied from skin-colored to red-brown in color.


This The Clinical Advisor CME activity consists of 3 articles. To obtain credit, read Purple plaque on foot after swim in river and Hypopigmented lesions. Then take the post-test here.


Syringomas, of which eruptive syringomas are one of the rare clinical variants, are benign adnexal neoplasms. Although syringomas were historically thought to have an eccrine lineage, it is now thought that these neoplasms can be derived from either apocrine or...

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Syringomas, of which eruptive syringomas are one of the rare clinical variants, are benign adnexal neoplasms. Although syringomas were historically thought to have an eccrine lineage, it is now thought that these neoplasms can be derived from either apocrine or eccrine glands1

Syringomas are believed to be more common in women; however, this may simply be because women are more likely than men to seek care for these lesions.1 Japanese women may be affected disproportionately.2 Syringomas occur in 18% of adults with Down syndrome, which is approximately 30 times the frequency seen in the normal population.2 Familial cases have been reported, but an inheritance pattern or underlying gene mutation has not been established.2

The pathogenesis of syringomas is unknown. In the case of eruptive syringomas, some hypothesize that the condition represents a proliferative process of inflamed normal eccrine glands, based on the observation that numerous lesions have appeared after the waxing of pubic areas.2

Clinically, syringomas present as small papules that are 1 to 3 mm in diameter.2 The color varies; skin-colored, yellow, brown, and pink papules have been described.2 Solitary lesions are rarely seen, as most syringomas occur in multiples. They most commonly appear on the periorbital areas, especially the eyelids, and upper cheeks.1,2 However, syringomas may also involve the upper trunk, more often on the ventral surface, or genital skin.1

Clinical variants of syringomas are rare and include eruptive syringomas in which multiple lesions appear suddenly.2 Historically, eruptive syringomas have also been referred to as eruptive hidradenomas of Jacquet and Darier.3 This entity is rare, with fewer than 100 cases reported in the literature.4 The onset is usually during young adulthood, in the second and third decades of life.3

In a retrospective review of 27 patients with eruptive syringomas, Soler-Carillo et al. noted that females were more commonly affected than males, and white patients were predominantly affected. However, ethnic variation is difficult to interpret, because this study was reported from a hospital in Barcelona, Spain, which involves a population that is presumably predominantly white.4 In this cohort, the mean age of diagnosis was 29 years, with only 33% of patients presenting before age 15 years.4 In Soler-Carillo’s review, it was noted that in prepubertal patients, eruptive syringomas favored the neck and anterior trunk, followed by areas of apocrine localization, such as the axillae and pubis.4

Eruptive syringomas are usually round to oval in shape, slightly elevated, firm, faintly rose-colored, and several millimeters in size.3 Individual lesions of this clinical variant have been known to coalesce into larger plaques. Eruptive syringomas may align with their long axes parallel to the lines of cleavage.3 This type of syringoma is seen most frequently on the neck, chest, axillae, upper arms, and periumbilical area.2 The lesions may also be found on the extremities, including the palms and soles.1 Crops of lesions occur for 2 to 3 years and tend to persist indefinitely.3 In rare cases, eruptive syringomas regress in adulthood, but this seems to be the exception rather than the rule.4

Eruptive syringomas can be associated with Nicolau-Balus syndrome, which is characterized by syringomas, milia, and atrophoderma vermiculata.4 There are reports of eruptive syringomas developing in patients with Down syndrome.4 Associations with neoplasms and diabetes mellitus have been reported, but because of the rarity of eruptive syringomas, it is difficult to determine any pathogenic relationship.4 A few familial cases of eruptive syringomas have also been reported.4

Other clinical variants of syringomas, which are all rare, include the following: those limited to the scalp, associated with alopecia; those with a unilateral linear or nevoid distribution; those limited to the vulva or penis; those limited to the distal extremities; and those resembling lichen planus or milia.2 Calcifications may occur in syringomas and may be mistaken for subepidermal calcified nodules.2 Plaque-type syringomas, which could resemble microcystic adnexal carcinoma,2 and acral syringomas are also rare clinical variants. Acral syringomas are considered to be of an eccrine lineage, because these lesions occur on the palms and soles, which exclusively contain eccrine glands.1 Patients with Down syndrome often present with eyelid syringoma.4 Eyelid syringomas are also frequently seen in Marfan and Ehlers-Danlos syndrome.4

The diagnosis of syringomas is often made clinically. The diagnosis of eruptive syringomas is a clinical one that is made when numerous syringomas present with sudden onset. 


When in question, a diagnosis of syringomas can be confirmed with a skin biopsy. On scanning magnification, syringomas are small and circumscribed, and they are usually confined to the superficial dermis as is expected in most benign lesions.1 Histologic examination reveals dilated cystic spaces.2 As expected, since syringomas are most commonly thought to be of eccrine lineage, these cystic spaces are lined by two layers of cuboidal cells with pale or pinkish cytoplasm.1,2 Epithelial strands of similar cells are often seen in the dermis as well.2 Depending on the way the sample is sectioned during processing, some of these cystic spaces appear to have comma-like tails, leading to descriptions such as “tadpoles in the dermis” or “paisley-tie pattern.”1,2 There is often a dense, fibrous stroma.2

A histologic variant of syringomas with cells that have an abundant clear cytoplasm due to the accumulation of glycogen has been described.2 Clear-cell syringomas are only a histologic variant, as they are clinically indistinguishable from syringomas. Clear-cell syringomas are associated with diabetes mellitus.1 Identical to the staining of the intraglandular eccrine duct, syringomas stain for keratins 5, 6, 14, 6, 16, 19, and 77 on the inner cell layer, and K5 and K4 on the outer cell layer.2

Treatment is difficult with syringomas, and not very effective. Anecdotally, syringomas respond well to light electrodesiccation or shave removal.2 To improve the cosmetic appearance of larger lesions, syringomas may be surgically excised.2 There are also case reports of syringomas being treated effectively with carbon-dioxide laser by the pinhole method or fractional thermolysis.2 Other reported therapies include trichloroacetic acid or cryotherapy.1

A biopsy confirmed the diagnosis of the patient in this case. Our patient was not distressed by the cosmetic appearance of her lesions, so treatment was not pursued.

Audrey Chan, MD, is a pediatric dermatology fellow at Texas Children’s Hospital in Houston.



This The Clinical Advisor CME activity consists of 3 articles. To obtain credit, read Purple plaque on foot after swim in river
 and Hypopigmented lesions. Then take the post-test here.


References


  1. Bolognia JL, Jorizzo JL, Rapini RP, eds. Dermatology. 3rd ed. St. Louis, Mo.: Mosby Elsevier; 2011: Chap.111.
  2. James WD, Berger T, Elston D. Andrews’ Diseases of the Skin. 11th ed. Philadelphia, Pa.: Elsevier; 2011:579-580. 

  3. Kuttner BJ, Kaplan DL, Rothstein MS. Eruptive pruritic papules. Eruptive syringomas (eruptive hidradenomas of Jacquet and Darier). Arch Dermatol. 1989;125(7):985, 988.

  4. Soler-Carrillo J, Estrach T, Mascaró JM. Eruptive syringoma: 27 new cases and review of the literature. J Eur Acad Dermatol Venereol. 2001;15(3):242-246. 

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