A functioning eccrine hamartoma associated with Down’ssyndrome (46,xx,¹21,þt(21q21q)

K.J.NIGHTINGALE, P.NEWMAN AND M.G.DAVIES Derriford Hospital, Derriford Road, Plymouth,Devon PL6 8DH, UK

Accepted for publication 17 July 1998

Summary

Pure eccrine hamartomas are very rare, and commonlypresent as localized areas of hyperhidrosis in normallooking skin. We describe a case of bilateral function-ing eccrine hamartomas with macroscopically abnormalfeatures in association with Down’s syndrome.

Case report

We report the case of a baby girl born prematurely at32 weeks gestation. She required neonatal intensive careand was diagnosed as having a very rare translocationform of Down’s syndrome. The parents also noticed thatshe had two areas of abnormal looking skin on theanterior aspect of her scalp. A dermatology referral wasmade at 6 months of age.

Examination revealed two asymmetrically distributedand sized lesions over the parieto-temporal areas bilater-ally; the affected skin was thrown into folds reminiscent

of cutis gyrata. There was no discoloration or suggestionof epidermal change. The parents further reported seeingsmall beads of sweat over the two areas when the child washot and especially when being bathed. The skin elsewherewas normal (Figs 1 and 2). Investigations performedincluded magnetic resonance imaging of the brain, whichwas normal, and a biopsy of one of the lesions. Histologyshowed increased numbers of eccrine glands within thedermis, in some of which the coils appeared enlarged.

Clinical and Experimental Dermatology 1998; 23: 264–266.

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Correspondence: K.J.Nightingale, Derriford Hospital, DerrifordRoad, Plymouth, Devon PL6 8DH, UK.

Figure 1. Eccrine hamartoma of left side of forehead.

Figure 2. Typical features of Down’s syndrome with eccrinehamartoma on forehead.

The glands were otherwise normal. There was noevidence of increased vascularity in the surroundingstroma. The epidermis however had a slightly undulatingsurface, but was otherwise normal, as were the hairfollicles. The appearances confirmed an eccrinehamartoma (Figs 3 and 4).

Discussion

Eccrine hamartomas are rare, and fall mainly into twocategories: pure eccrine hamartomas1,2 and eccrineangiomatous hamartomas.2 They are an example offunctioning naevi, having a physiological as well asanatomical peculiarity. Other functional naevi include

naevus oligaemicus,3 naevus anaemicus, and acnenaevi.4

An eccrine angiomatous hamartoma is composed ofa benign proliferation of eccrine sweat glands andcapillary vascular elements; in one case, small nerveswere also found.1 The condition is rare and may becongenital or appear during childhood; macroscopicallyit is usually a single nodule or plaque occurring on anextremity.

A pure eccrine hamartoma is extremely rare; only afew have been reported to date1,2 and consist only ofincreased numbers of normal eccrine sweat glands, orpossibly an increase in size of the sweat gland coil.5

There can be one or more draining ducts. This case

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Figure 3. Skin showing increased numbersof, and slightly enlarged, eccrine glands(haematoxylin & eosin ×80).

Figure 4. Large eccrine sweat coils at highermagnification (haematoxylin & eosin ×100).

would now seem unusual in comparison to thosepreviously reported in that the macroscopicappearances of the skin were abnormal, most othercases including areas of hyperhidrosis which are other-wise macroscopically normal,2,5,6 or extremely smallareas, such as solitary discharging pores7 or smallplaques.8

This form of Down’s syndrome is also rare, accountingfor approximately 3% of all cases, there being no reportsin the literature of an association between eccrine hamar-tomas and the condition. Is this just coincidental or couldthere be a link?

In summary, this pure eccrine hamartoma wasmacroscopically visible, occupying two extensive siteson the patient’s forehead, obviously functional, andassociated with an extremely rare form of Down’ssyndrome.

References

1. Weedon D. Eccrine tumours: a selective review. Journal ofCutaneous Pathology 1984; 11: 421–36.

2. Parslew R, Lewis-Jones M. Localised unilateral hyperhidrosissecondary to an eccrine naevus. Clin Exp Derm 1997; 22: 246–7.

3. Davies MG, Greaves MW, Coutts A et al. Naevus oligaemicus.A variant of naevus anaemicus. Arch Dermatol 1981; 117: 111–3.

4. Hughes BR, Cunliffe WJ. An acne naevus. Clin Exp Dermatol1987; 12: 357–9.

5. Smith VC, Montesinos E, Revert A et al. Eccrine angiomatoushamartoma: report of three patients. Paediatric Dermatol 1996; 13:139–42.

6. Kopera D, Soyer HP. Eccrine hamartoma of the sweat glands simulat-ing localised unilateral hyperhidrosis. Hautarzt 1992; 43: 587–9.

7. Pippione M, Depaoli MA, Sartoris S. Eccrine nevus. Dermatolo-gica 1976; 152: 40–6.

8. Goldstein N. Ephidrosis (local hyperhidrosis): nevus sudoriferus.Arch Dermatol 1967; 96: 67–8.

9. Herzberg JJ. Eccrine hamartoma. Archiv fur Klinische undExperimentelle Dermatologie 1962; 214: 600–21.

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