Schneiderman Prelims Vol-I. qxd

SYNDROMES
Congenital malalignment of the great toenail – thickened nails
Rook p.2865, 1998, Sixth Edition
Costello syndrome – warty papules around nose and mouth,
legs, perianal skin; loose skin of neck, hands, and feet, thick
palmoplantar surfaces, hypoplastic nails, short stature,
craniofacial abnormalities 
Eur J Dermatol 9:533–536, 1999;
Aust Paediat J 13:114–118, 1977
Epidermodysplasia verruciformis – spiny hyperkeratosis of
palms and soles 
Ped Derm 20:176–178, 2003
Familial mandibuloacral dysplasia
Greither’s syndrome – poikiloderma of face and extremities;
warty keratoses over hands, feet, and legs; plantar
keratoderma; normal nails and hair 
Hautarzt 9:364–369, 1958
Haim–Munk syndrome – autosomal recessive; mutation in
cathepsin C gene (like Papillon–Lefevre syndrome);
palmoplantar keratoderma, scaly red patches on elbows, knees,
forearms, shins, atrophic nails, gingivitis with destruction of
periodontium, onychogryphosis, arachnodactyly, recurrent
pyogenic infections 
BJD 152:353–356, 2005
Hereditary (bullous) acrokeratotic poikiloderma of Weary
(acrokeratotic poikiloderma) (Kindler’s syndrome?) – autosomal
dominant – vesiculopustular eruption of hands and feet in
infancy and childhood; extensive dermatitis in childhood,
persistent poikiloderma sparing face, scalp and ears, verrucous
papules of hands, feet, elbows, and knees 
AD 103:409–422,
1971; pseudoainhum and sclerotic bands Int J Dermatol
36:529–533, 1997; AD 103:409–422, 1971
Hereditary callosities – blisters at periphery of calluses 
JAAD
11:409–415, 1984
Hereditary sensory and autonomic neuropathy type I – calluses
over metatarsal heads which blister, necrose, and ulcerate 
Rook
p.2779, 1998, Sixth Edition
Incontinentia pigmenti: progressive persistent verrucous
plaques; X-linked dominant. Xp28 or Xp11.21 locations; skin
lesions present in 50% at birth and in 90% by 2 weeks of life;
dental abnormalities in two-thirds of patients, ocular in 25–35%,
and CNS defects in one-third 
JAAD 47:169–187, 2002; AD
124:29–30, 1988
Lipoid proteinosis (Urbach–Wiethe disease) – autosomal
recessive; yellow verrucous plaques and nodules on
extensor surfaces; asymptomatic visceral involvement of
multiple organs; extracellular hyaline-like material in dermis;
PAS positive and diastase resistant; probably represents
glycoproteins and/or proteoglycan complexes 
BJD
151:413–423, 2004; JID 120:345–350, 2003; BJD
148:180–182, 2003; Hum Molec Genet 11:833–840, 2002;
JAAD 39:149–171, 1998; Ped Derm 14:22–25, 1997;
JAAD 21:599–601, 605, 1989
Pachyonychia congenita 
Ped Derm 14:491–493, 1997
Phakomatosis pigmentokeratotica – coexistence of an organoid
nevus (epidermal nevus) and a contralateral segmental
lentiginous or papular speckled lentiginous nevus 
Dermatology
194:77–79, 1997
Reiter’s syndrome – keratoderma blenorrhagicum 
Rook
p.2765–2766, 1998; Semin Arthritis Rheum 3:253–286, 1974
Rothmund–Thomson syndrome (poikiloderma congenitale) –
autosomal recessive; hyperkeratotic lesions of hands,
wrists, feet, and ankles 
Ped Derm 18:210–212, 2001;
Am J Med Genet 22:102:11–17, 2001; Ped Derm
18:210212, 2001; Ped Derm 16:59–61, 1999; Dermatol
Clin 13:143–150, 1995; JAAD 27:75–762, 1992;
JAAD 17:332–338, 1987
Schwachman’s syndrome – neutropenia, malabsorption,
failure to thrive; generalized xerosis, follicular hyperkeratosis,
widespread dermatitis, palmoplantar hyperkeratosis 
Ped
Derm 9:57–61, 1992; Arch Dis Child 55:531–547, 1980;
J Pediatr 65:645–663, 1964
Werner’s syndrome