Dermatologic Differential Diagnosis.pdf. - Famona Site

72 A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
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, childlike
facies Birth Defects 12:15–29, 1976
Parry–Romberg syndrome Ped Derm 21:48–50, 2004; JAAD
22:531–533, 1990
Partial lipodystrophy, complement abnormalities, vasculitis –
macroglossia, polyarthralgia, mononeuritis, hypertrophy of
subcutaneous tissue Ann DV 114:1083–1091, 1987
Patau syndrome (Trisomy 13) – capillary hemangiomas of the
forehead, localized scalp defects G Ital DV 121:25–28, 1986
Patterson David syndrome – pseudoleprechaunism
Premature aging and short stature syndrome (Mulvihill–Smith
syndrome) – loss of facial subcutaneous tissue
Proteus syndrome – lipohypoplasia and patchy dermal
hypoplasia AD 140:947–953, 2004; AD 133:77–80, 1997
Prune belly syndrome – wrinkled abdominal skin with
abdominal muscle absence and urogenital malformations J Urol
139:335–337, 1988
Pseudoxanthoma elasticum Rook p.2022–2026, 1998, Sixth
Edition; penicillamine-induced pseudoxanthoma elasticum
JAAD 30:103–107, 1994; Dermatology 184:12–18, 1992;
saltpetre-induced pseudoxanthoma elasticum Acta DV
58:323–327, 1978
Rapp–Hodgkin ectodermal dysplasia
Reflex sympathetic dystrophy Cutis 68:179–182, 2001; AD
127:1541–1544, 1991; JAAD 22:513–520, 1990
Restrictive dermopathy (stiff skin syndrome) – rigid
transluecent inelastic skin; severe intrauterine growth retardation;
micrognathia, fixed facial expression, low-set ears, pinched nose,
O-shaped mouth, flexion contractures AD 138:831–836, 2002
Reticulolinear aplasia cutis congenita of the face and neck – Xp
deletion syndrome, MIDAS (microphthalmia, dermal aplasia,
sclerocornea), MLS (microphthalmia and linear skin defects),
and Gazali–Temple syndrome; lethal in males; residual facial
scarring in females, short stature, organ malformations BJD
138:1046–1052, 1998
Roberts syndrome (pseudothalidomide syndrome, SC
phocomelia syndrome) – facial midline capillary malformation
with limb defects; bony abnormalities, cleft lip and palate,
unusual facies (hypoplastic nares, micrognathia, malformed
ears, hypertelorism); marked growth retardation; silvery hair
Curr Probl Dermatol 3:69–107, 1995
Romberg syndrome (facial hemiatrophy) Arch Neurol
39:44–46, 1982
Rombo syndrome – acral erythema, cyanotic redness, follicular
atrophy (atrophoderma vermiculata), milia-like papules,
telangiectasias, red ears with telangiectasia, thin eyebrows,
sparse beard hair, basal cell carcinomas, short stature BJD
144:1215–1218, 2001; Acta DV (Stockh) 61:497–503, 1981
Rothmund–Thomson syndrome (poikiloderma congenitale)
Ruvalcaba syndrome – atrophic plaques on trunk
Sakati syndrome – patchy alopecia with atrophic skin above
ears, submental linear scars, acrocephalopolysyndactyly, short
limbs, congenital heart disease, abnormally shaped low-set ears,
ear tag, short neck with low hairline J Pediatr 79:104–109, 1971
Say–Barber syndrome – short stature, microcephaly, large ears,
flexion contractures, decreased subcutaneous fat; dermatitis in
infancy with transient hypogammaglobulinemia Am J Med
Genet 86:165–167, 1999
Scleroatrophic and keratotic dermatosis of limbs (scleroatrophic
syndrome of Huriez) – autosomal dominant; scleroatrophy of
hands, sclerodactyly, palmoplantar keratoderma, xerosis,
hypoplastic nails BJD 143:1091–1096, 2000; BJD 134:512–518,
1996; Bull Soc Fr Dermatol Syphiligr 70:24–28, 1963
Setleis syndrome (focal facial dermal dysplasia) – aged leonine
appearance, bi-temporal scar-like defects, absent or multiple
rows of upper eyelashes, eyebrows slanted up and out, scar-like
median furrow of chin BJD 130:645–649, 1994; Pediatrics
32:540–548, 1963
SHORT syndrome Syndromes of the Head and Neck, p.826, 1990
Sjögren’s syndrome – atrophic vulvitis, anal mucosa Rook
p.2572, 1998, Sixth Edition
Terminal osseous dysplasia and pigmentary defects – regional
skin hypoplasia Am J Med Genet 124A:202–208, 2004
Thoracic outlet syndrome
Treacher Collins syndrome