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September 2015 Dermatology Clinic
A 4-year-old male brought in by his mother presents with multiple white papules on his face and extremities. The patient also displays hypotrichosis of the scalp and several small dimples, which resemble indentations left by an ice pick, on the dorsum of his forearms. The child’s lesions have been present since birth, and his mother appears to have similar manifestations on her skin. The patient’s mother had previously been treated for cutaneous malignancies associated with her condition.
This The Clinical Advisor CME activity consists of 3 articles. To obtain credit, read Red-brown papules and plaques on the head and body and Enlarging brown spots. Then take the post-test here.
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Bazex-Dupré-Christol syndrome is a rare genodermatosis characterized by follicular atrophoderma, multiple milia, hypohidrosis, congenital hypotrichosis, and early onset of numerous basal cell carcinomas.1
The most likely mode of inheritance for Bazex-Dupré-Christol syndrome is X-linked dominant, as there have been no reported cases of male-to-male transmission and almost all daughters of affected fathers are also affected.2 The gene responsible has been isolated to the distal end of the long arm of the X chromosome in the Xq25-q27.1 region.2 This gene may be associated with the development of hair follicles and formation of subsequent tumors.1 Many families with reported cases of Bazex-Dupré-Christol syndrome have originated from central Europe, specifically France and Belgium.2 Since it was first described in 1964, the disorder has been identified in approximately 138 patients from 20 families.2,3
Milia (keratin-filled cysts) are present in approximately 75% of patients; they typically appear during infancy or early childhood and on the face, extremities, trunk, axillae, and groin.4 The milia are accompanied by follicular atrophoderma on the extensor surfaces, face, and dorsa of the hands and feet.1 The histologic appearance of follicular atrophoderma shows depressions in the epidermis with clusters of basaloid cells surrounded by loose stroma in the dermis.2
Approximately 85% of patients with Bazex-Dupré-Christol syndrome will develop hypotrichosis of the scalp and body hair during infancy. Males and females exhibit contrasting presentations, with boys displaying a uniformly severe form of hypertrichosis and girls developing intermingled normal and abnormal hairs.2 Additional hair shaft abnormalities, such as pili torti and trichorrhexis nodosa, may also be present.2,4 Hypohidrosis is observed in 55% of patients, either exclusively affecting the face or with a more diffuse pattern of distribution.2
Although the neoplastic component of Bazex-Dupré-Christol syndrome can manifest as early as age 3 years, it arises most often in the second or third decade of life, during which time basal cell carcinomas may present in 40% of patients.3 The most common location of these lesions is the face, and the lesions may clinically resemble melanocytic nevi or comedones.2
Less common findings that have been described in various case reports of Bazex-Dupré-Christol syndrome include atopy, comedones, keratosis pilaris, ichthyosis, arachnodactyly with joint hyperlaxity, osteochondritis, deafness, leukemia, lingua plicata, and hyperpigmentation of the forehead.2
The differential diagnosis of Bazex-Dupré-Christol syndrome includes Gorlin syndrome (multiple basal cell nevi and carcinomas), X-linked dominant chondrodysplasia punctata (with prominent follicular atrophoderma), and Rombo syndrome (follicular atrophy, milia-like papules, and basal cell carcinomas).2
The patient in this case exhibited milia and follicular atrophoderma, neither of which are associated with Gorlin syndrome. Additionally, 75% of patients with Gorlin syndrome experience odontogenic keratocysts, which were not present in this patient. Patients with X-linked dominant chondrodysplasia punctata may present with alopecia and large skin pores, but the patient in our case did not display other symptoms associated with X-linked dominant chondrodysplasia punctata, which include low nasal bridge, asymmetric limb shortness, or scoliosis/kyphosis. Rombo syndrome can be differentiated from Bazex-Dupré-Christol syndrome by the presence of telangiectasia, cyanotic redness of the lips and hands, and erythema of the face.2
Basal cell carcinoma is the most common skin malignancy in humans, but an underlying Mendelian disorder should be suspected in patients with multiple early onset lesions.5 Xeroderma pigmentosum predisposes patients to early-onset basal cell carcinoma, but xeroderma pigmentosum is easily differentiated clinically from Bazex-Dupré-Christol syndrome.5
If hair loss is the presenting symptom, additional diagnoses to consider include hypotrichosis simplex and hypohidrotic ectodermal dysplasia.6
Generalized basaloid follicular hamartoma syndrome is a rare, autosomal dominant syndrome that shares some clinical features with Bazex-Dupré-Christol syndrome including milia and scalp hypotrichosis. Generalized basaloid follicular hamartoma syndrome is distinguished from Bazex-Dupré-Christol syndrome by the lack of atrophoderma and development of basal cell carcinoma and the presence of palmar or plantar pits.2
The diagnosis of Bazex-Dupré-Christol syndrome and other genodermatoses can be difficult, because symptoms develop at different ages and intrafamilial phenotypic variations may exist.6
Management of patients with Bazex-Dupré-Christol syndrome involves early diagnosis and treatment of basal cell carcinoma. Imiquimod may be useful in the treatment of early basal cell carcinoma, with cryosurgery serving as a more potent therapy. Radiation therapy is not advised, and sun exposure should be limited in these patients. Retinoids have proven beneficial in the prevention of skin cancer in Gorlin syndrome and xeroderma pigmentosum, but their efficacy in Bazex-Dupré-Christol syndrome is yet to be determined.2
In our case, a biopsy was performed on one of the patient’s lesions, which was on the superior aspect of his right ear pinna. It was found to be a benign skin tumor (cutaneous calcinosis). He will be closely followed with regular clinic appointments and monitored for development of basal cell carcinoma.
The patient’s mother had been diagnosed with and treated for basal cell carcinomas in the past; she was also attending regular follow-up appointments with skin exams.
Distinguishing features of disorders that are similar to Bazex-Dupré-Christol syndrome
| Rombo syndrome | Telangiectasias; cyanotic redness of lips, hands; facial erythema |
| Gorlin syndrome | Odontogenic keratocysts |
| Chondrodysplasia punctata | Low nasal bridge; asymmetric limb shortness; scoliosis; kyphosis |
Kelly R. Stiegel, BA, is a medical student and Maura Holcomb, MD, is a dermatology resident at Baylor College of Medicine in Houston.
This The Clinical Advisor CME activity consists of 3 articles. To obtain credit, read Red-brown papules and plaques on the head and body and Enlarging brown spots. Then take the post-test here.
References
- Barcelos AC, Nico MM. Bazex-Dupré-Christol syndrome in a 1-year-old boy and his mother. Pediatr Dermatol. 2008;25(1):112-113.
- Torrelo A, Sprecher E, Mediero IG, et al. What syndrome is this? Bazex-Dupré-Christol syndrome. Pediatr Dermatol. 2006;23(3):286-290.
- Abuzahra F, Parren LJ, Frank J. Multiple familial and pigmented basal cell carcinomas in early childhood—Bazex-Dupré-Christol syndrome. J Eur Acad Dermatol Venereol. 2012;26(1):117-121.
- Berk DR, Bayliss SJ. Milia: A review and classification. J Am Acad Dermatol. 2008;59(6):1050-1063.
- Castori M, Morrone A, Kanitakis J, Grammatico P. Genetic skin diseases predisposing to basal cell carcinoma. Eur J Dermatol. 2012;22(3):299-309.
- Parren LJ, Abuzahra F, Wagenvoort T, et al. Linkage refinement of Bazex-Dupré-Christol syndrome to an 11.4-Mb interval on chromosome Xq25-27.1. Br J Dermatol. 2011;165(1):201-203.
This The Clinical Advisor CME activity consists of 3 articles. To obtain credit, read Red-brown papules and plaques on the head and body and Enlarging brown spots. Then take the post-test here.
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