Dermatologists are more familiar with Birt-Hogg-Dubé syndrome than radiologists are, since the cutaneous symptoms are the dominant feature of this rare syndrome. It is an autosomal dominant genodermatosis classically composed of multiple cutaneous hamartomas, renal tumours, and pulmonary cysts, which are often forerunners of spontaneous pneumothorax. It is rarely considered in the differential ...

Incontinentia pigmenti is rare X-linked dominant disorder. There is no consistent expression of Incontinetia pigmenti in female child, but in male child, they always lead to death in utero. Vesicular, verrucous, hyperpigmented, and atrophic stages are the four stages of Incontinetia Pigmenti and it is uncommon for all stages to be seen in a same case. It is a rare genodermatosis, with only very...

Xeroderma pigmentosum is a rare genodermatosis, autosomal recessive in nature in which excessive ultraviolet radiation causes skin, ocular, neurological, and oral lesions along with development of cutaneous and internal malignancies at an early age. There is no definitive cure for the disease. Avoidance of ultraviolet radiation, use of protective clothing, sunscreens, oral retinoids, 5-fluorour...

Lipoid proteinosis (LP) is an extremely rare autosomal recessive genodermatosis, characterized by persistent hoarseness and classical skin lesions. Amorphous hyaline depositions may affect any organ, but mainly the face extremities. These cause limitations in tongue movement, hence, difficulty speaking. Biopsies of lesions usually show massive deposits homogeneous, acidic, hyaline-like material...

Birt-Hogg-Dubé syndrome is an autosomal dominant genodermatosis characterized by the presence of fibrofolliculomas, renal cancer, pulmonary cysts, and spontaneous pneumothorax. Recently, the folliculin gene responsible for this process has been identified, located on the short arm of chromosome 17. We present the case of a 49-year-old man with multiple whitish papules on the face, neck, and ret...

Darier's disease (DD) is an autosomal dominant inherited genodermatosis which is often under- or misdiagnosed. In the majority of cases, the disease manifests in adolescents or young adults with small brownish-yellow, warty, hyperkeratotic papules in multiple seborrheic areas of the body. Localized DD (LDD) is a clinical variant, first described by Kreibich in 1906; only a few cases are reporte...

Sir, Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant genodermatosis which is characterized by the coexistence of hyperkeratotic plaques and transient erythematous patches. Irregular, variably shaped erythematous macular patches may enlarge or regress over time. Concurrently, there are persistent, well-demarcated, geographic, hyperkeratotic plaques which are distributed on the ...

Milia are frequently encountered as a primary or secondary patient concern in pediatric and adult clinics, and in general or surgical dermatology practice. Nevertheless, there are few studies on the origin of milia and, to our knowledge, there is no previous comprehensive review of the subject. We review the various forms of milia, highlighting rare variants including genodermatosis-associated ...