Petty Skin Conditions Lecture

Cylindromatosis

• Familial Cylindromatosis - predisposition to neoplasms in skin appendages (AD, more frequent in females)

• Presents in 2nd/3rd decades of life and progressively worsens

  • CYLD mutations predict a truncated or absent encoded protein

  • w/o CYLD proliferation gets favored over apoptosis via TNF-a, NF-kB, leading to tumor formation

TNF-α and NF-κB pathway role

•NF-κB transcription factors have key roles in:

•Inflammation

•Immune responses

•Oncogenesis

•Proliferation

•Uncontrolled NF-κB activation may lead to excess proliferation, resulting in tumor formation

Lines of Blaschko

Figure 2: Patterns of the skin according to Blaschko's lines.

(a) Type 1a: linear (many X-linked traits).

(b) Type 1b: broad linear (many X-linked traits).

(c) Type 2: lateralization or checkerboard pattern (as in congenital hemidysplasia with Ichthyosiform erythroderma and limb defects (CHILD) syndrome, for example).

(d) Type 3: phylloid (leaf-like) pattern

Ataxia Telangiectasia visible signs