Content

»	Syndromes with Premature Aging
	»	Werner Syndrome (Adult Progeria)
	»	Progeria (Hutchinson–Gilford Syndrome)
»	Disorders with Immunodeficiency
	»	Familial Chronic Mucocutaneous Candidiasis (FCMC)
	»	Hyper-IgE Syndrome (Job Syndrome)
	»	Wiskott–Aldrich Syndrome (WAS)
	»	Severe Combined Immunodeficiency (SCID)
	»	Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)
»	Disorders of Pigmentation
	»	Oculocutaneous Albinism (OCA)
	»	Chédiak–Higashi Syndrome
	»	Hermansky–Pudlak Syndrome
	»	Griscelli Syndrome
	»	Hypomelanosis of Ito
	»	Incontinentia Pigmenti (Bloch–Sulzberger Syndrome)
	»	Piebaldism
	»	Waardenburg Syndrome
»	Disorders with Pigmented Lesions
	»	McCune–Albright Syndrome (Polyostotic Fibrous Dysplasia)
	»	Russell–Silver Syndrome
»	Vascular Disorders
	»	Sturge–Weber Syndrome (SWS)
	»	Klippel–Trénaunay Syndrome (KTS)
	»	Proteus Syndrome
	»	Cobb Syndrome
	»	Von Hippel–Lindau Syndrome (VHL)
	»	Beckwith–Wiedemann Syndrome
	»	Rubinstein–Taybi Syndrome
	»	Mafucci Syndrome
	»	Blue Rubber Bleb Nevus Syndrome (Bean Syndrome)
	»	Cornelia de Lange Syndrome
	»	Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu)
	»	Hereditary Lymphedema (Milroy Disease)
	»	Lymphedema–Distichiasis Syndrome
	»	Noonan Syndrome
	»	Turner Syndrome
	»	Meige Lymphedema (Hereditary Lymphedema II)

Disorders of pigmentation

Figure 2.25
A: Oculocutaneous albinism
(Courtesy of Dr. Paul Getz)
B: Hypomelanosis of Ito
C: Incontinentia pigmenti
(Reprint from Burgdorf WH,
Plewig G, Wolff HH,
Landthaler M, eds. Braun-
Falco’s Dermatology. 3rd ed.
Heidelberg: Springer; 2009)

Oculocutaneous Albinism (OCA) (Figure 2.25A)

Type	Inheritance/Defect	Clinical
OCA, Type 1a (Tyrosinase-negative)	AR TYR (Tyrosinase enzyme deficiency)	No melanin in skin/hair/ eyes, white hair (over time may turn slightly yellow), milky white-pink skin, blue-gray eyes, amelanotic nevi (pink), extreme UV sensitivity, ↑ skin CA, nystagmus, strabismus, ↓ visual acuity
OCA, Type 1b (Yellow mutant)	AR TYR	↓ Tyrosinase activity, little or no pigment at birth, develop some pigment over time, milder eye findings
OCA, Type 2 (Tyrosinase-positive)	AR P gene (↓ Eumelanin synthesis)	Most common OCA, broad clinical phenotype (minimal to moderate dilution), pigmented nevi develop over time, light brown hair/skin
OCA, Type 3 (Rufous)	AR TYRP-1 (Tyrosinase-related protein 1)	Light brown hair/skin, blue or brown irides, nystagmus, ↓ visual acuity