ABHD5 gene. cannot break down TGs and fats accumulate in skin, liver, muscles, intestine, eyes and ears. Ichthyosis at birth. Hepatomegaly, cataracts, ataxia, hearing loss, short stature, myopathy, nystagmus and mild cognitive impairment. TSC1 (hamartin), TSC2 (tuberin).
Ash leaf macule, Shagreen patch (collagenoma), adenoma sebaceum (facial angiofibroma), periungual angiofibroma (Koenen tumor) are classic signs.
Also: CALMs, seizures, retinal astrocytic hamartomas (phakomas), angiod streaks, renal angiomyolipoma, congenital rhabdomyomas, dental enamel pits.
Cutis marmorata, hirsutism, synophrys, trichomegaly, numerous craniofacial abnormalities, severe MR, deafness, low pitched cry, short stature, clinodactyly, GU abnormalities, cryptorchidism, congenital heart defects and deafness. hyperextensible skin, gaping wounds, cigarette-paper scars, molluscoid pseudotumors, calcified subQ nodules, bruises, hypermobile joints with dislocation, hernias, mitral valve prolapse, blue sclerae, Gorlin's sign (tongue reaches nose) absence of linguinal frenulum