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At a glance

Basal cell carcinomas, multiple milia on face and limbs, sparse scalp and body hair, and increased sweating and facial pigmentation.

Incidence

Incidence is not known, but if it is considered a separate entity from ☞Bazex-Dupré-Christol Syndrome, then it is exquisitely rare.

Genetic inheritance

Inheritance seems to be either autosomal dominant or X-linked dominant.

Clinical aspects

The main features of these mentally normal patients are sparse, coarse scalp hair, sparse body hair (eyebrows, eyelashes, axillary, and pubic hair), and multiple, often big milia (keratin-filled cysts 1-2 mm in diameter, also known as “milk spots”) present since birth on the face, limbs, and buttocks. These milia tend to decrease in numbers or even disappear spontaneously around puberty. Overall, the skin is described as very dry with mildly to markedly increased facial pigmentation. Numerous basal cell nevi are common. Most often multiple basal cell carcinomas develop (in some patients >100) starting already in early adult life. Mild hypertelorism and dysplastic nails on the halluces have been described occasionally. Some patients complain about excessive sweating, which is different from Bazex-Dupré-Christol Syndrome, where sweating is decreased. Nevertheless, some experts consider it to be the same entity as ☞Bazex-Dupré-Christol Syndrome.

Precautions before anesthesia

Routine preoperative assessment and examination. There are no specific anesthetic precautions related to this disorder.

Anesthetic considerations

Atropine and other parasympatholytic drugs may be beneficial if sweating is excessive, which might potentially render taping the endotracheal tube, intravenous cannulas, and ECG electrodes challenging. However, temperature must be controlled to prevent hyperthermia.

Pharmacological implications

Atropine and other parasympatholytic drugs inhibit sweating, hence hyperthermia could occur.

Other conditions to be considered

  • ☞Bazex-Dupré-Christol Syndrome (Bazex Syndrome; Acrokeratosis Paraneoplastica; Follicular Atrophoderma-Basocellular Proliferations-Hypotrichosis Syndrome; Follicular Atrophoderma-Basal Cell Carcinoma Syndrome): X-linked dominant inherited disorder characterized by follicular atrophoderma in combination with hypotrichosis, hypohidrosis, and nevoid basal cell carcinomas.

  • ☞Gorlin-Goltz Syndrome (Basal Cell Nevus Syndrome; Gorlin Syndrome). N.B.: Do not confuse with Focal Dermal Hypoplasia Syndrome, which is sometimes also referred to as Goltz-Gorlin Syndrome or ☞Goltz Syndrome (Synonyms: Goltz-Peterson-Gorlin-Ravits Syndrome; Jessner-Cole Syndrome; Liebermann-Cole Syndrome): Autosomal dominant inherited ectodermal disorder characterized by basal cell nevi on the torso and shoulders with a high risk for transition into basal cell carcinomas. Facial abnormalities include macrocephaly, mild hypertelorism, thick and often fused eyebrows, and broad nasal root.

  • ☞Rombo Syndrome: Autosomal dominant inherited disorder with facial follicular skin atrophy, milia and telangiectases, absent eyelashes and eyebrows, and later in life basal cell carcinomas. Sweating is normal.

References

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Oley  CA, Sharpe  H, Chenevix-Trench  G: Basal cell carcinomas, coarse sparse hair, and milia. Am J Med Genet 43:799, 1992.  [PubMed: 1642265]
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Vabres  P, de Prost ...

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