Schneiderman Prelims Vol-I. qxd

TOXINS
Eosinophilia myalgia syndrome 
JAAD 25:512–517, 1991
TRAUMA
Radiotherapy
JAAD 40:862–865, 1999; ichthyosiform
erythroderma due to megavoltage radiotherapy 
Cutis 48:59–60,
1991
Sympathectomy-induced ichthyosis-like eruption 
Int J Dermatol
39:146–151, 2000
VASCULAR DISORDERS
Lymphostasis
IMMUNE DEFICIENCY SYNDROMES
WITH PYODERMAS
Ped Derm 1:134–142, 1983
Acrodermatitis enteropathica 
Am J Med Genet 66:378–398, 1996
Adenine deaminase deficiency – autosomal recessive;
disproportionate short stature; short limb skeletal dysplasia
type 1 (bowed femurs); severe immunodeficiency 
Am J Med
Genet 66:378–398, 1996
α
-Mannosidosis – autosomal recessive; hepatosplenomegaly,
psychomotor retardation, dysostosis multiplex 
Am J Med Genet
66:378–398, 1996
Anhidrotic ectodermal dysplasia with immunodeficiency –
mutation in NEMO 
JAAD 47:169–187, 2002
Ataxia–telangiectasia – autosomal recessive 
Am J Med Genet
66:378–398, 1996
Biotin-responsive multiple carboxylase deficiency – alopecia,
developmental delay, hypotonia, seizures, biotinidase deficiency
Am J Med Genet 66:378–398, 1996
Bloom’s syndrome – autosomal recessive; short stature,
telangiectatic erythema of face, photosensitivity 
Am J Med
Genet 66:378–398, 1996
Braegger syndrome – proportionate short stature, IUGR,
ischiadic hypoplasia, renal dysfunction, craniofacial anomalies,
postaxial polydactyly, hypospadias, microcephaly, mental
retardation 
Am J Med Genet 66:378–398, 1996
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A CLINICIAN’S GUIDE TO DERMATOLOGIC DIFFERENTIAL DIAGNOSIS, VOLUME 1
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Bruton’s hypogammaglobulinemia – X-linked (90%) or autosomal
recessive (10%) 
Cartilage-hair hypoplasia (metaphyseal chondrodysplasia of
McKusick) (disproportionate short stature; short limb skeletal
dysplasia) – dwarfism, mild leg bowing, short sparse, lightly
colored hair; some with total baldness, immune defects 
Am J
Med Genet 66:378–398, 1996; Eur J Pediatr 155:286–290,
1996; Eur J Pediatr 142:211–217, 1993; Am J Med Genet
41:371–380, 1991; Bull Johns Hopkins Hosp 116:285–326, 1965
Chediak–Higashi syndrome 
Am J Med Genet 66:378–398, 1996
Chronic blepharitis and pyoderma of the scalp – with
hypercupremia and decreased intracellular killing 
Ped Derm
1:134–142, 1983
Chronic granulomatous disease 
NEJM 352:64–69, 2005;
Bolognia p.842–844, 2003
Common variable immunodeficiency 
BJD 147:364–367, 2002
Defective intracellular killing, pyoderma, blepharitis, scarring
alopecia
Deletion of short arm of chromosome 18 – mental and growth
deficiency, microcephaly, ptosis 
Am J Med Genet 66:378–398,
1996
Deletion of long arm of chromosome 18 – midface hypoplasia,
microcephaly, mental retardation, nystagmus 
Am J Med Genet
66:378–398, 1996
Deletion of chromosome 22:q11 (DiGeorge/velo-cardio-facial
syndrome) – aortic arch anomalies, hypocalcemia, facial
defects, thymic hypoplasia 
Am J Med Genet 66:378–398, 1996
DNA ligase I deficiency – short stature, photosensitivity 
Am J
Med Genet 66:378–398, 1996
Dubowitz syndrome – occasional immunodeficiency 
Am J Med
Genet 66:378–398, 1996
Dyskeratosis congenita 
Am J Med Genet 66:378–398, 1996
Enteropathy with villous edema – autosomal dominant of
Mennonites, fulminant plasma-like stool, edematous jejunal villi
Am J Med Genet 66:378–398, 1996
Familial intestinal polyatresia – multiple atresias from pylorus
to rectum with combined immunodeficiency 
Am J Med Genet
66:378–398, 1996
Familial neutrophil chemotaxis defect syndrome
Fanconi pancytopenia – autosomal recessive; radial hypoplasia,
hyperpigmentation, pancytopenia 
Am J Med Genet 66:378–398,
1996
5
′
nucleotidase elevation – increased nucleotide catabolism,
developmental delay, seizures, megaloblastic anemia,
aggressive behavior 
Am J Med Genet 66:378–398, 1996
Fleisher syndrome – proportionate short stature,
hypogammaglobulinemia, isolated growth hormone deficiency
Am J Med Genet 66:378–398, 1996
Folic acid malabsorption (transport defect) – megaloblastic
anemia, convulsions, movement disorder 
Am J Med Genet
66:378–398, 1996
Frankel–Russe syndrome – retinal telangiectasias, recurrent
infections 
Am J Med Genet 66:378–398, 1996
Galactosemia – autosomal recessive; hepatomegaly,
hypoglycemia, jaundice, feeding difficulties 
Am J Med Genet
66:378–398, 1996
Glutathione synthetase deficiency – autosomal recessive;
hemolytic anemia, acidosis, neutropenia, decreased bactericidal
activity, failure to assemble microtubules 
Am J Med Genet
66:378–398, 1996
Glycogen storage disease Ib – autosomal recessive; recurrent
infection, neutropenia, glucose-6-phosphate transport defect
Am J Med Genet 66:378–398, 1996
Good syndrome – immunodeficiency, thymoma 
Am J Med
Genet 66:378–398, 1996
Griscelli syndrome 
Am J Med Genet 66:378–398, 1996
Hallermann–Streiff syndrome – autosomal dominant; occasional
immunodeficiency – thin pinched nose, congenital cataracts,
hypotrichosis, microphthalmia 
Am J Med Genet 66:378–398, 1996
Hutchinson–Gilford syndrome – autosomal dominant; occasional
immunodeficiency 
Am J Med Genet 66:378–398, 1996
Hyper-IgM syndrome (hypogammaglobulinemia with hyper-IgM) –
X-linked with mutation in CD40 ligand gene; low IgA and IgG;
sarcoid-like granulomas; multiple papulonodules of face,
buttocks, arms 
Ped Derm 21:39–43, 2004; Bolognia p.845, 2003
ICF syndrome (immunodeficiency, centromeric instability-facial
anomalies) – autosomal recessive; variable immune deficiency,
mental retardation, chromosomal instability, facial dysmorphism
Am J Med Genet 66:378–398, 1996
Job’s syndrome (hyper-IgE syndrome) (Buckley’s syndrome) –
chronic recurrent Staphylococcus (cold) abscesses,
hyperextensible joints, red hair, female, hyper-IgE syndrome 
J
Pediatr 141:572–575, 2002; NEJM 340:692–702, 1999; Lancet
1:1013–1015, 1966
Jung syndrome – pyoderma, folliculitis, atopic dermatitis,
response to histamine-1 antagonist 
Am J Med Genet
66:378–398, 1996
Kotzot syndrome – autosomal recessive; tyrosinase-positive
oculocutaneous albinism, granulocytopenia, thrombocytopenia,
recurrent bacterial infections, microcephaly, mental retardation
Am J Med Genet 66:378–398, 1996
Krawinkel syndrome – lissencephaly, abnormal lymph nodes,
spastic tetraplegia, transient arthritis, mental 
Am J Med Genet
66:378–398, 1996
Lazy leukocyte syndrome
Lichtenstein syndrome – osteoporosis, bony anomalies, lung
cysts, neutropenia 
Am J Med Genet 66:378–398, 1996
Methylmalonic aciduria – autosomal recessive; acidosis,
recurrent severe infection 
Am J Med Genet 66:378–398, 1996
Mulibrey nanism – autosomal recessive, proportionate short
stature, prenatal growth deficiency, muscle weakness, abnormal
sella turcica, hepatomegaly, ocular fundi lesions 
Am J Med
Genet 66:378–398, 1996
Mulvihill–Smith syndrome – autosomal dominant; proportionate
short stature, microcephaly, unusual facies (broad forehead,
small face, micrognathia), multiple pigmented nevi, hypodontia,
immunodeficiency with chronic infections, high pitched voice,
progeroid, conjunctivitis, delayed puberty 
Am J Med Genet
66:378–398, 1996; J Med Genet 31:707–711, 1994
Myeloperoxidase deficiency syndrome
Netherton syndrome 
Am J Med Genet 66:378–398, 1996
Nijmegen breakage syndrome – autosomal recessive;
microcephaly, mental retardation, prenatal onset short stature,
bird-like facies, café-au-lait macules 
Am J Med Genet
66:378–398, 1996
Omenn syndrome – disproportionate short stature, short limb
skeletal dysplasia type1; alopecia, eosinophilia, ichthyosiform
skin lesions, reticuloendotheliosis, erythroderma 
Am J Med
Genet 66:378–398, 1996
Orotic aciduria, type I – autosomal recessive – megaloblastic
anemia, severe infection 
Am J Med Genet 66:378–398, 1996
Papillon–Lefevre syndrome – autosomal recessive 
Am J Med
Genet 66:378–398, 1996
Powell syndrome – X-linked, intractable diarrhea, autoimmune
polyendocrinopathy, dermatitis, hemolytic anemia 
Am J Med
Genet 66:378–398, 1996