Correct!
2. Birt-Hogg-Dubé syndrome

Trichodiscoma, or fibrofolliculoma, is a hamartoma of the hair disc, and is a relatively specific finding for Birt-Hogg-Dubé syndrome, and does not occur in association with the other disorders listed. A number of skin lesions may be seen in patients with tuberous sclerosis, including facial angiofibromas, periungual fibromas, hypomelanotic macules, Shagreen patches (connective tissue nevi), and Confetti lesions. Dermatologic manifestations of Carney complex include myxomas and lentigines (hyperpigmentation). Alport syndrome is a hereditary nephritis characterized by glomerulonephritis and end-stage renal disease and hearing loss; skin disorders are not a primary manifestation of Alport syndrome. DiGeorge syndrome results from a chromosomal abnormality and is characterized by various combinations of congenital cardiac defects, palatal defects, recurrent infections resulting from T-cell abnormalities that may be associated with thymic hypoplasia, endocrine abnormalities, and facial dysmorphism, among other disturbances.

Subsequent intensive family history showed that at least 4 immediate family members had similar skin lesions. This finding, in concert with the other findings calling into question the accuracy of the diagnosis of TSC-LAM, prompted testing for the folliculin gene mutation that is often present in patients with Birt-Hogg-Dubé syndrome, and the testing was positive.

Diagnosis: Birt-Hogg-Dubé syndrome

References

  1. Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM. Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome. Am J Respir Crit Care Med. 2007;175(10):1044-53. [CrossRef] [PubMed]
  2. Tobino K, Hirai T, Johkoh T, Kurihara M, Fujimoto K, Tomiyama N, Mishima M,Takahashi K, Seyama K. Differentiation between Birt-Hogg-Dubé syndrome and lymphangioleiomyomatosis: quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females. Eur J Radiol. 2012; 81(6):1340-6. [CrossRef] [PubMed]
  3. Agarwal PP, Gross BH, Holloway BJ, Seely J, Stark P, Kazerooni EA. Thoracic CT findings in Birt-Hogg-Dube syndrome. AJR Am J Roentgenol. 2011; 196(2):349-52. [CrossRef] [PubMed]
  4. Avila NA, Dwyer AJ, Rabel A, Moss J. Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features. Radiology. 2007; 242(1):277-85. [CrossRef] [PubMed]

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