Dermatologic Differential Diagnosis.pdf. - Famona Site

Myotonic dystrophy Syndromes of the Head and Neck,
p.587, 1990
Renal failure
Multiple hormonal deficiency states
Emotional stress – growth hormone deficiency and delayed
puberty Am J Med 76:737–742, 1984
Familial cytomegalic adrenocortical hypoplasia – X-linked;
pubertal failure Arch Dis Child 56:715–721, 1981
Hemochromatosis J Clin Endocrinol Metab 76:357–361,
1993
Idiopathic
Langerhans cell histiocytosis
Nevoid basal cell carcinoma syndrome – hypogonadism in
males Rook p.1686, 1998, Sixth Edition; JAAD 11:98–104,
1984
Radiation therapy Med Pediatr Oncol 22:250–254, 1994
Sarcoid
Tuberculosis
Tumors – Sertoli–Leydig cell tumor Am J Obstet Gynecol
152:308–309, 1985
Vascular disease
Zinc deficiency, endemic Am J Clin Nutr 30:833–834, 1977;
Arch Int Med 111:407–428, 1963
Hyperprolactinemia – pituitary microadenoma Arch Gynecol
Obstet 264:90–92, 2000; macroproprolactinoma Minerva
Endocrinol 21:67–71, 1996; prolactinomas Clin Endocrinol
(Oxf) 30:131–140, 1989; primary hypothyroidism Curr Ther
Endocrinol Metab 6:223–226, 1997
Specific syndromes with hypogonadotrophism
Bloom’s syndrome – small testes
Cerebellar ataxia
Cohen’s syndrome J Med Genet 17:430–432, 1980
Cockayne syndrome
Cutis laxa – generalized cutis laxa – autosomal
dominant – lesions often preceded in infancy by episodes
of edema; infantile genitalia; scant body hair; bloodhound
appearance of premature aging Rook p.2019–2020, 1998,
Sixth Edition
Down’s syndrome Syndromes of the Head and Neck, p.33,
1990
Hutchinson–Gilford syndrome (progeria) – absent sexual
maturity Am J Med Genet 82:242–248, 1999; J Pediatr
80:697–724, 1972
Laurence–Moon–Biedl syndrome
Multiple lentigines syndrome
Noonan’s syndrome Syndromes of the Head and Neck,
p.805, 1990
Pallister–Hall syndrome Syndromes of the Head and Neck,
p.903, 1990
Popliteal pterygium syndrome Syndromes of the Head and
Neck, p.629, 1990
Prader–Willi syndrome Eur J Pediatr 160:69–70, 2001
Pseudohypothyroidism Syndromes of the Head and Neck,
p.141, 1990
Rothmund–Thomson syndrome (poikiloderma
congenitale) – autosomal recessive; hypogonadism
Ped Derm 18:422–425, 2001; Ped Derm 18:210–212,
2001; Am J Med Genet 22:102:11–17, 2001; Ped Derm
16:59–61, 1999; Rook p.417, 1998, Sixth Edition; Dermatol
Clin 13:143–150, 1995; JAAD 27:75–762, 1992; BJD
122:821–829, 1990; Ped Derm 6:325–328, 1989; Ped
Derm 6:321–324, 1989; JAAD 17:332–328, 1987;
JAAD 17:332–338, 1987
Rubinstein–Taybi syndrome – hypogonadotropic
hypogonadism; autosomal dominant; mutations or deletions
of chromosome 16p13.3; human cAMP response element
binding protein Ped Derm 21:44–47, 2004
Rud’s syndrome
PUBERTY, DELAYED 541
Sakati syndrome Syndromes of the Head and Neck, p.558,
1990
Sclerodactyly, non-epidermolytic palmoplantar
keratoderma, multiple cutaneous squamous cell
carcinomas, periodontal disease with loss of teeth,
hypogenitalism with hypospadius, altered sex hormone
levels, hypertriglyceridemia, 46XX JAAD 53:S234–239,
2005
Seckel syndrome Syndromes of the Head and Neck, p.313,
1990
Short rib-polydactyly syndromes Syndromes of the Head
and Neck, p.218–219, 1990
Triploidy syndrome Syndromes of the Head and Neck, p.64,
1990
Complete trisomy 22 – primitive low-set ears, bilateral
preauricular pit, broad nasal bridge, antimongoloid
palpebral fissures, macroglossia, enlarged sublingual
glands, cleft palate, micrognathia, clinodactyly of fifth
fingers, hypoplastic fingernails, hypoplastic genitalia, short
lower limbs, bilateral sandal gap, deep plantar furrows
Pediatrics 108:E32, 2001
Turner’s syndrome – gonadal dysgenesis Curr Ther
Endocrinol Metab 6:223–226, 1997; Syndromes of the
Head and Neck, p.54, 1990
Walker–Warburg syndrome Syndromes of the Head and
Neck, p.593, 1990
Werner’s syndrome
X-linked ichthyosis Clin Exp Dermatol 22:201–204, 1997
49,XXXXY syndrome Syndromes of the Head and Neck,
p.59, 1990
Systemic disease
AIDS Trop Doct 31:233, 2001; J Acquir Immune Defic
Syndr 21:333–337, 1999
Alagille syndrome – xanthomas of palmar creases,
extensor fingers, nape of neck; growth retardation, delayed
puberty Ped Derm 22:11–14, 2005
Anorexia nervosa, unwarranted dieting Nutr Rev 42:14–15,
1984
Biliary atresia J Pediatr Surg 25:808–811, 1990
Chronic renal failure Pediatr Nephrol 7:551–553, 1993;
congenital magnesium-losing kidney Ann Clin Biochem
30:494–498, 1993
Congenital heart disease
Cushing’s disease J Pediatr Endocrinol 6:201–204, 1993
Cystic fibrosis Clin Pediatr (Phila) 37:573–576, 1998;
Pediatrics 99:29–34, 1997; Pediatrician 14:253–260, 1987
Diabetes mellitus
Gaucher’s disease type 1 Isr Med Assoc J 2:80–81, 2000
Gluten intolerance
Hypothyroidism
Inflammatory bowel disease
Sickle cell disease West Indian Med J 44:20–23, 1995
Thalassemia major J Pediatr Endocrinol Metab
10:175–184, 1997; Eur J Pediatr 156:777–783, 1997
Trichothiodystrophy, mental retardation, short stature, ataxia,
and gonadal dysfunction Am J Med Genet 35:566–573, 1990
Trisomy 18 mosaicism Am J Med Genet 50:94–95, 1994
X-linked agammaglobulinemia with growth hormone
deficiency and delayed growth and puberty Acta Paediatr
83:99–102, 1994
Zinc deficiency Ann Rev Nutr 5:341–363, 1985
Excessive exercise Ann NY Scad Sci 709:55–76, 1994
Low gonadotropins – pubertal failure
Congenital
Kallmann’s syndrome
Luteinizing hormone deficiency
Follicle stimulating hormone deficiency
Panhypopituitarism