THE SYNDROME PAGE

Editors: Susan B. Mallory, M.D., and Bernice R. Krafchik, M.B., Ch.B., F.R.C.P.C.

What Syndrome Is This?

Eileen Tan, M.D., and Yong-Kwang Tay, M.D.

National Skin Centre, Singapore

CASE REPORT

A 21-year-old Chinese man presented with thickened,painful palms and soles associated with nail dystrophysince childhood. He was the product of an uncomplicatedterm pregnancy, born to nonconsanguineous parents. Hehas four normal siblings and there was no significantfamily history. At birth, the infant was noted to havenormal hair but absent eyebrows. At the age of 10 yearshe developed diffuse alopecia. Palmoplantar kerato-derma began at the age of 3 years and nail dystrophy atthe age of 11 years. The psychomotor milestones were

delayed. He could only sit at 2 years of age, stand at 3years of age, and began to walk at 5 years of age. Hestarted talking at 8 years of age and was assessed to bementally retarded.

Clinical examination revealed nail dystrophy (Fig. 1).The nails were thickened, brittle, discolored, and grewslowly, complicated by frequent paronychial infection.Other features were diffuse hyperkeratosis of the palms(Fig. 2) and soles (Fig. 3), diffuse alopecia, absent eye-brows (Fig. 4), pubic and axillary hairs (Fig. 5). Theteeth, lips, palate, and ocular examination were normal,and there were no problems with sweating.

Address correspondence to Yong-Kwang Tay, M.D., National SkinCentre, 1 Mandalay Rd., Singapore 308205.

Figure 1. Nail dystrophy with thickened and brittle nails. Figure 2. Palmar keratoderma.

Pediatric Dermatology Vol. 17 No. 1 65–67, 2000

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WHAT SYNDROME IS THIS?

Hidrotic Ectodermal Dysplasia(Clouston Syndrome)

Clouston syndrome, also known as hidrotic ectodermaldysplasia, is a rare autosomal dominant disorder charac-terized by a triad of alopecia, dystrophic nails, and hy-perkeratosis of the palms and soles. Although most caseshave been reported in French–Canadian families (1),other ethnic groups have also been affected, for example,

a large Chinese family in which 15 members in fivegenerations were affected (2). None of our patient’s fam-ily members are affected and he probably represents anew mutation.

The nails are thickened, slow growing, and brittle.Thick nails may be apparent early in infancy and persis-tent paronychial infections are frequent. The skin isthickened beneath the free edges of the nails, over thefinger joints, and sometimes over the knees and elbows(3). Diffuse hyperkeratosis of the palms and soles occursand may be severe. Scalp hair is generally normal duringinfancy, but it may become sparce or absent after pu-berty. The eyebrows and body hairs are sparse or absent.The teeth and facies are often normal and there is noabnormality of sweating. Ocular abnormalities includingstrabismus, pterygium, conjunctivitis, and prematurecataracts have been reported (4). Other anomalies thathave been described include sensorineural hearing loss,polydactylism, syndactylism, and multiple eccrine poro-mas (5). Genital maturation and life expectancy are un-affected. Mental development may be retarded but isoften normal.

Recently Kibar et al (6) reported mapping of the locusof hidrotic ectodermal dysplasia in French-Canadianfamilies to the pericentromeric region of chromosome13q. This linkage was later confirmed in a large Indianfamily (7).

Hyperkeratosis of the palms and soles may be helpedby keratolytic agents, for example, salicylic acid oint-ment. Systemic retinoids such as acitretin may be re-quired for disabling palmoplantar keratoderma. The ben-

Figure 3. Hyperkeratosis of the soles.

Figure 4. Diffuse alopecia and absent eyebrows.

Figure 5. Axillary hair is absent.

66 Pediatric Dermatology Vol. 17 No. 1 January/February 2000

efits and long-term risks, particularly with regard to liverfunction, triglyceridemia and bone remodeling in prepu-bertal children have to be carefully weighed (8).

REFERENCES

1. Clouston HR. A hereditary ectodermal dystrophy. CanMed Assoc J 1929;21:18–31.

2. Rajagopalan K, Tay CH. Hidrotic ectodermal dysplasia: astudy of a large Chinese pedigree. Arch Dermatol 1977;113:481–484.

3. Joachim H. Hereditary dystrophy of the hair and nails insix generations. Ann Intern Med 1936;10:400–402.

4. Hazen PG, Zamora I, Bruner WE, et al. Premature cata-

racts in a family with hidrotic ectodermal dysplasia. ArchDermatol 1980;116:1385–1387.

5. Wilkinson RD, Schopflocher P, Rozenfeld M. Hidrotic ec-todermal dysplasia with diffuse eccrine poromatosis. ArchDermatol 1977;113:472–476.

6. Kibar Z, Der Kaloustian VM, Brais B, Hani V, Fraser FC,Rouleau GA. The gene responsible for Clouston hidroticectodermal dysplasia maps to the pericentromeric region ofchromosome 13q. Hum Mol Genet 1996;5:543–547.

7. Radhakrishna U, Blouin JL, Mehenni H. The gene for au-tosomal dominant hidrotic ectodermal dysplasia in a largeIndian family maps to the 13q11-q12.1 pericentromericregion. Am J Med Genet 1997;71:80–86.

8. Peck GL. Retinoids in dermatology. Arch Dermatol 1980;116:283–284.

CALL FOR PAPERS

The editors of The Syndrome Page welcome submission of your manuscripts for consideration. Pleasesubmit in triplicate with two sets of excellent color photographs to: Susan B. Mallory, M.D., Division of Derma-tology, St. Louis Children’s Hospital, 1 Children’s Place–3N48, St. Louis, MO 63110, in the following format:Page 1, title; Page 2, case report followed by “What syndrome is this?”; Page 3, answer and discussion, followedby references and figure legends. Fax questions to Dr. Mallory at (314) 454-4232.

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