Dermatology

Basex-Dupre-Christol syndrome

Are You Confident of the Diagnosis?

What you should be alert for in the history

Patients with multiple basal cell carcinomas (BCCs) of early onset in the same family is typical of Basex-Dupré-Christol syndrome

Characteristic findings on physical examination

Frequent symptoms:

-Multiple BCC of early onset

-Follicular atrophoderma presenting as grouped pits on the dorsa of the hands and feet or extensor surface of the elbows and knees (Figure 1)

Figure 1.

Follicular atrophoderma

-Hair abnormalities as the earliest sign (congenital hypotrichosis)

-Profuse milia as small papules beginning early

Infrequent symptoms:

-Epidermal cysts

-Hyperpigmentation of the face

-Hypohidrosis

-Trichoepithelioma

Expected results of diagnostic studies

Histopathology:

-Typical histopathologic features of BCC and milium

-Follicular atrophoderma: Depression in epidermis, grouped basaloid cells in superficial dermis

-Hair shaft defects (rudimentary hair shaft)

Diagnosis confirmation

Coexistence of major dermatologic features establish the diagnosis. The differential diagnosis includes the following diseases:

  • Nevoid basal cell nevus syndrome (Gorlin syndrome): Multiple BCCs begin at early childhood; milia may also be seen but palmoplantar pits are typical dermatologic features of nevoid basal cell nevus syndrome. Odontogenic jaw cysts, rib abnormalities, calcification of falx cerebri and coarse facies are other manifestations of nevoid basal cell nevus syndrome.

  • Xeroderma pigmentosum: BCCs may occur during the whole life period but not always as multiple lesions; other cutaneous malignancies such as squamous cell carcinoma and malignant melonoma may also occur. Photosensitivity, ephelids, lentiginosis and extracutaneous manifestations (eg, eye, neurologic involvement) are other findings of xeroderma pigmentosum.

  • Hypohidrotic ectodermal dysplasia: Hypotrichosis is the common main feature of both syndromes; but coarse facies and dental abnormalities are typical for hypohidrotic ectodermal dysplasia. In hypohidrotic ectodermal dysplasia, hairs of patients are blond, fine and scaly.

Who is at Risk for Developing this Disease?

Other family members of the patients are at risk for developing the disease. Phenotype is variable within an affected family, and all family members should be examined.

What is the Cause of the Disease?

Etiology

Pathophysiology

Basex-Dupré-Christol syndrome is a genetic disorder with X-dominant inheritance. The gene defect is on Xq24-27.1.

Systemic Implications and Complications

Dysmorphic features: Nasal wings may be flat.

Treatment Options

Photoprotection

Therapy for BCCs:

-Excision

-Imiquimod

-Cryotherapy

-Mohs surgery

-Systemic retinoids (suppressive therapy)

Optimal Therapeutic Approach for this Disease

There is no specific treatment for the syndrome itself. The choice of treatment for BCCs depends on the number of lesions, their site, and individual characteristics. Local destructive procedures, surgical excisions (including Mohs surgery), photodynamic therapy, and medical treatments such as imiquimod may all be appropriate. Photodynamic therapy may also be an option for treating BCCs.

Patient Management

The family should be informed about the course of the disease. Preventive measures including use of sunscreens is essential. Regular tumor screening for BCCs should be initiated once to twice a year beginning in early childhood to all members of the family. Early tumors may be subtle and can be misdiagnosed.

Unusual Clinical Scenarios to Consider in Patient Management

In patients who are not treated early, the BCCs can be destructive.

What is the Evidence?

Bazex, A, Dupre, A, Christol, B. "Genodermose complexe de type indetermine associant une hypotrichose, un etat atrophodermique generalise et des degenerescences cutanees multiples (epitheliomas-basocellulaires)". Bull Soc Franc Derm Syph. vol. 71. 1964. pp. 206.

(Bazex and colleages have described a new syndrome with hereditary tumors.)

Abuzahra, F, Paren, LJMT, Frank, J. "Multiple familial and pigmented basal cell carcinomas in early chilhood-Bazex-Dupré-Christol syndrome".

(The authors revised the classification of symptoms of the syndrome and suggested that milia should be considered as a frequent sign.)

GlaessI, A, Hohenlautner, U, Landthaler, M, Vogt, T. "Sporadic Bazex-Dupré-Christol-like syndrome: early onset basal cell carcinoma, hypohidrosis, hypotrichosis, and prominent milia". Dermatol Surg. vol. 26. 2000. pp. 152-4.

(A case report describing a patient with Bazex-Dupré-Christol syndrome similar to the classical type. Hypohidrosis was also present in this patient.)

Beljan, G, Metze, D. "Miliaria and follicular atrophodermia as an early sign of Bazex-Dupré-Christol syndrome". J Dtsch Dermatol Ges. vol. 2. 2004. pp. 602-4.

(A case report describing a child presenting with milia, follicular atrophoderma and hypotrichosis.)

Gréco, M, Bessaguet-Küpfer, I, Bourrigan, M, Plantin, P. "Diffuse milia in an infant indicative of Bazex-Dupré-Christol syndrome". Ann Dermatol Venereol. vol. 133. 2006. pp. 697-9.

(A case of an infant presenting with diffuse milia as the first sign of Bazex-Dupré-Christol syndrome.)

Kidd, A, Carson, L, Gregory, DW, de Silva, D, Holmes, J, Dean, JC. "A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma". J Med Genet. vol. 33. 1996. pp. 493-7.

(Five affected patients in three generations in a family with this syndrome with multiple BCCs.)

Baykal, C, Yazganoglu, KD. "Dermatological diseases of the nose and ears. An illustrated guide". Springer. 2010.

(An illustrated book giving summarized information about different dermatologic diseases affecting the nose and ears. There are cilinical pictures about various genodermatoses including Bazex-Dupré-Christol syndrome.)

Caputo, R, Tadini, G. "Atlas of genodermatoses". Taylor and Francis. 2006.

(A detailed atlas including genodermatoses related to malignancy.)
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