Inheritance Patterns

pearl - if you have seen the disease in clinic, but cannot remember the inheritance pattern, then guess autosomal dominant (because these are the more common diseases)

•	Basal Cell Nevus Syndrome

•	Darier’s disease

•	Gardner’s syndrome

•	Nail-Patella syndrome

•	Pachyonychia congenita

•	Tuberous sclerosus

•	Osler-Weber-Rendu disease

•	Hyper-IgE syndrome

(always ask about consanguineous parents when suspecting autosomal recessive diagnosis)

•	ataxia telangiectasia

•	Hartnup’s disease

•	Cockayne syndrome

•	Rothmund-Thompson syndrome

•	Bloom syndrome

(exception = CHILD syndrome = AD )

•	collodion baby (CIE, lamellar ichthyosis)

•	harlequin fetus

•	Netherton’s syndrome

•	Sjogren-Larson syndrome

•

(P)IBIDS

•	acrodermatitis enteropathica (inherited form)

•	Wilson’s disease

•	Hemochromatosis

•	homocystinuria

•	alkaptonuria

•	phenylketonuria

•	argininosuccinic aciduria

Only occur in males (i.e. much more common in males).

•	Fabry’s disease (angiokeratoma corporis diffusum)

•	Wiskott-Aldrich syndrome

•	X-linked ichthyosis

•	X-linked cutis laxa /type IX ED and Menke’s kinke hair

•	anhidrotic ectodermal dysplasia

•	dyskeratosis congenita (most cases)

Usually lethal in males, therefore only seen in females. Most follow Blaschko’s lines, because of Lyon hypothesis.

•

CHILD

•	Goltz syndrome

(but you may have thought they were inherited...)

•	Protean syndrome

•	McCune Albright syndrome

numerous cavernous hemangiomas (venous malformations):

•	Mafucci’s syndrome

•	blue rubber bleb nevus syndrome

nevus flammeus:

•	Sturge-Weber

•	Klippel-Trenaunay-Weber

•	Cobb syndrome