Mendenhall’s syndrome – pineal hyperplasia, insulin resistant
diabetes mellitus, lipodystrophy
Mendes da Costa syndrome (dystrophia bullosa, typus
maculatus) – X-linked recessive; tense bullae, alopecia, coarse
reticulated hyperpigmentation of face and extremities with
atrophy, mental retardation
Acta DV (Stockh) 18:265, 1937
Metageria
Metaphyseal dysplasia, anetoderma, optic atrophy
Microphthalmia with linear skin defects syndrome (MLS
syndrome) (microphthalmia, dermal aplasia, and sclerocornea
(MIDAS) syndrome) – X-linked dominant; atrophic Blaschko
linear scars of face and neck; linear red atrophic skin
(resembles aplasia cutis)
Am J Med Genet 124A:202–208,
2004; Textbook of Neonatal Dermatology, p.466–467, 2001;
Am J Med Genet 49:229–234, 1994
Multiple benign annular creases of the extremities
Multiple follicular hamartomas with sweat gland and sebaceous
differentiation, vermiculate atrophoderma, milia, hypotrichosis,
and late development of basal cell carcinomas
JAAD
39:853–857, 1998
Nail–patella syndrome – hypoplasia of distal phalanges
Ped
Derm 19:454–456, 2002; thin or atrophic nails Ghatan p.109,
2002, Second Edition
Neurofibromatosis type 1 – pseudoatrophic macules
AD
118:577–581, 1982; congenital reddish neurofibromatous dermal
hypoplasia with follicular papules
Cutis 68:253–256, 2001
Neutrophilic dermatosis (pustular vasculitis) of the dorsal hands –
variant of Sweet’s syndrome – atrophic scars
AD 138:361–365,
2002
Nicolau–Balus syndrome – vermiculate atrophoderma of
cheeks, eruptive syringomas and milia on trunk and extremities
Noonan’s syndrome – ulerythema ophryogenes
Oculocerebrocutaneous syndrome – regional skin hypoplasia
Am J Med Genet 124A:202–208, 2004
Oculo-ectodermal syndrome – macrocephaly, cutis aplasia,
abnormal pigmentation, scalp nodules, corneal epibulbar
dermoid cysts
BJD 151:953–960, 2004; Bolognia p.924, 2003
Odonto-onycho-dermal dysplasia – telangiectatic atrophic
patches of face, sparse hair, conical teeth, hyperkeratosis of
palms and soles, dystrophic nails
Am J Med Genet
14:335–346, 1983
Opitz syndrome – membranous aplasia cutis with
hypertelorism, cleft lip/palate, hypospadias, cryptorchidism
Textbook of Neonatal Dermatology, p.127, 2001
Osteodysplastic geroderma (Walt Disney dwarfism) – short
stature, cutis laxa-like changes with drooping eyelids and jowls,
osteoporosis and skeletal abnormalities
Am J Med Genet
3:389–395, 1979
Osteogenesis imperfecta – blue sclerae; thin fragile skin
J Med
Genet 16:101–116, 1979
Panhypopituirary dwarfism – short stature, excess
subcutaneous fat, high pitched voice, soft, wrinkled skin, child-
like facies
Birth Defects 12:15–29, 1976
Parry–Romberg syndrome
Ped Derm 21:48–50, 2004; JAAD
22:531–533, 1990
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