Last Update:
Dec 2001

Dermatologic Disorders in
Down Syndrome

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by Dr. Len Leshin, MD, FAAP

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Copyright 2001, All rights reserved

Since the skin tends to reflect other conditions of the body, it's not surprising that children and adults with DS have more than their share of skin problems. This article will address those skin conditions and disorders that are more common in people with DS than the general population.

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Newborn Skin

Newborns with Down syndrome (DS) frequently have blue hands and feet at birth and for several days afterwards. The medical term is called acrocynaosis, and is due to decreased circulation in the hands and feet. This is a harmless condition. Another skin condition seen in newborns is a bluish mottling of the skin, called cutis marmorata (latin for "marble-like skin"). Cutis marmorata is a response of the capillaries of the skin to being cool; it is common in all newborns, but it lasts several months longer in infants with DS.

Chronic Skin Conditions

Children with Down syndrome may have dry, rough skin. This is often referred to as xerosis. While often associated with vitamin A deficiencies in other children, this is not a common cause of xerosis in Down syndrome. This is best managed with nondrying soaps, adding oils to the bath water, and moisturizers.

Chelitis is the presence of fissures and red, scaly skin at the corners of the mouth and lips. This is usually due to moisture collecting at the corners of the mouth, but can also be complicated by infection from bacteria or the yeast Candida. The application of a mild steroid cream is useful, along with treating infection when present.

Atopic dermatitis is the presence of red, scaly, itchy skin. It is most likely to appear on the cheeks, behind the ears, behind the knees, and in the elbow creases. Treatment is with steroid creams and oral antihistamines. It shows up mostly in the first years of life. Seborrhea is a similar condition, but usually greasy and scaly, and appearing on the scalp and eyebrows. Dandruff shampoos or shampoos with either tar compounds or salicylates are used to treat seborrhea of the scalp. Occasionally antifungal preparations may be useful.

Hyperkeratosis is very thick skin, and in people with Down syndrome occurs on the palms and soles of the feet. Treatment is only tried if the hyperkeratosis appears to bother the person with it, and consists of creams with salicyclic acid or a pumice stone. Hyperkeratosis of the feet can be decreased by wearing confortable shoes.

Syringomas are benign skin tumors that arise from sweat ducts. They look like very small multiple raised nodules on the skin, with varying degrees of yellowish color. They are most often seen on the eyelids, neck and chest. Syringomas occur twice as often in females as in males. These do not require treatment, but they can be removed by lasers, shaving or scooping out with a curette.

Elastosis perforans serpiginosa is a disorder of the elastic tissue of the skin, causing deep red raised lesions to appear ina linear or a circular pattern. These tend to occur on the back and sides of the neck, but may also be seen on the chin, the cheeks, arms and knees. These occur in males four times as often as in females. These may last for well over 10 years before going away on their own. Liquid nitrogen is the best current treatment, but this condition has a high rate of recurrence.

Vitiligo is a loss of pigmentation of the skin in well-defined areas. It may occur anywhere on the body and at any age. Vitiligo is not a common problem in people with DS, but is still more common than in the general population. The cause is unknown, but it may be caused by autoantibodies destroying melanocytes, which are cells in the skin that produce pigment.

Acanthosis Nigrans is an increase in pigmentation. The darker skin is also slightly elevated and scaly, often with the appearance of dirt that won't wash off. One large study in Spain reported that out of 51 adults with DS, 26 had acanthosis nigrans. This condition most often appears on the back of the neck, the hands, and the groin. While acanthosis nigrans has been associated with type II diabetes mellitus, none of the affected adults with DS with acanthosis nigrans had evidence of diabetes.

Skin Infections

Folliculitis is the inflammation and/or infection of hair follicles of the skin, and appears as small red bumps or yellowish pustules. Most infections are due to the bacteria staphylococcus, though a fungal version has been described in adults with Down syndrome. Folliculitis typically responds to either topical or oral antibiotics and good cleaning with an antibacterial soap. The persistent, fungal folliculitis appears to respond to the antifungal drug itraconazole or topical selenium. When the staphylococcal infection is deep, it produces boils (furuncles) and abscesses, which require oral antibiotics.

Other fungal infections may be seen in the groin area, on the feet, and in toenails and fingernails, and respond to typical antifungal preparations.

Scabies is an infection of the skin caused by a microscopic mite. For reasons unknown, this infection is a common problem in teens and adults with DS, and tends to be a worse infection than in the general population. The mite is transmitted by skin-to-skin contact. The rash is extremely itchy, and typically appears as small raised red dots. These dots can appears in lines (the mites burrowing under the skin), but is more often seen in the webs between fingers, around the waist, on the buttocks, and around the bra line in females. If the affected person itches the rash a lot, it can develop a secondary bacterial infection. Scabies usually responds to permethrin cream with a one-time application.


Alopecia areata is the term used to describe patchy hair loss which is not due to infection or drugs. The bald patches have distinct borders, with no hair thinning in other areas of the scalp. It is believed to be due to an autoimmune process, meaning the body is making antibodies against hair follicles. People with DS are more prone to autoimmune diseases, such as diabetes, hypothyroidism and celiac disease. Alopecia areata is more common in people with DS, occurring in 5 to 9% of the population (compared to 1 to 2% of the general population). A gene implicated in the cause of alopecia areata has been found on the 21st chromosome; see the abstract for August 2000.

Alopecia is highly unpredictable. People with alopecia can have several episodes of hair loss and regrowth during their lifetime. The hair regrowth can be partial or complete, or there may be no regrowth at all. In most people, hair will eventually regrow to some extent within one year. However, a small percentage of people can develop chronic alopecia. In some cases, the hair loss will cover the entire scalp, which is called alopecia totalis. In a very small percentage, hair loss can occur all over the body, which is called alopecia universalis.

There is no cure at present for alopecia; treatment is currently aimed at helping hair regrowth, but it cannot stop the spread of hair loss. The first line of treatment for adults and teenagers is injection of corticosteroids into the bald spots, with the goal of suppressing the immune reaction causing hair loss. This is not used for children due to the pain involved. Regrowth can be seen in 4 to 8 weeks, and treatment is repeated every 4 to 6 weeks up to a maximum of 6 months. The application of steroid creams are ineffective. There has been some success with hair regrowth with topical applications of minoxidil and anthralin. There are newer agents being tried in clinical studies such as diphenylcyclopropenone and dinitrochlorobenzene, but are not yet commercially available.



  • Benson PM and Scherbenske JM. Dermatologic Findings, pages 209-215 in Biomedical Concerns in Persons with Down Syndrome, ed. Pueschel SM and Peuschel JK, Paul H Brookes Pub, Baltimore, 1992.
  • Dourmishev A et al. Cutaneous aspects of Down syndrome. Cutis 66:420-424, 2000.
  • Ercis M et al. Dermatological manifestations of 71 Down syndrome children admitted to a clinical genetics unit. Clin Genet 50:317-320, 1996.
  • Kavanagh GM et al. Folliculitis in Down syndrome. Brit J Derm 129:696-699, 1993.
  • Madani S and Shapiro J. Alopecia areata update. J Amer Acad Derm 42(4):549-566, 2000.
  • Munoz-Perez MA and Camacho F. Acanthosis nigrans: A new cutaneous sign in severe atopic dermatitis and Down syndrome. J Eur Acad Dermatol Venereol 15: 325-327, 2001.

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