Hutchinson-Gilford Progeria Differential Diagnoses

Updated: Feb 08, 2017
  • Author: Kara N Shah, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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DDx

Diagnostic Considerations

Werner syndrome (pangeria) findings are as follows:

  • Onset age of 15-30 years
  • Prematurely aged appearance
  • High-pitched voice
  • Beak-shaped nose
  • Sclerodermatous skin
  • Immature sexual development
  • Cataracts
  • Hypogonadism
  • Arteriosclerosis: Complications of arteriosclerosis reduce life expectancy to the fifth decade.
  • RECQL2 (a DNA helicase gene) mutations

Acrogeria (Gottron type) findings are as follows:

  • Onset occurring up to age 6 years
  • Premature aging of extremities
  • Cutaneous atrophy and subcutaneous wasting of the face and extremities
  • Hair unaffected
  • No atherosclerosis or systemic disease

Rothmund-Thomson syndrome findings are as follows:

  • Onset age of 3-6 months
  • Cataracts
  • Poikilodermatous skin changes
  • Premature graying of the hair and/or alopecia
  • Increased photosensitivity
  • Short stature
  • Microcephaly
  • Hypogonadism
  • RECQL4 (a DNA helicase) mutations

Cockayne syndrome findings are as follows:

  • Onset during second year of life
  • Marked loss of subcutaneous fat
  • Growth failure
  • Increased photosensitivity
  • Ocular abnormalities (eg, optic atrophy, pigmentary retinopathy)
  • Microcephaly
  • Ataxia and progressive mental deterioration
  • Disproportionally large hands and feet
  • Protruding ears
  • Sensorineural hearing loss

Seckel syndrome findings are as follows:

  • "Bird-head" facies
  • Dwarfism
  • Trident hands
  • Skeletal defects
  • Hypodontia
  • Hypersplenism
  • Premature graying
  • Stiff skin syndrome
  • Diffuse progressive hardening of the skin, usually starting in the gluteal region, beginning at birth or early infancy
  • Joint contractures
  • Hypertrichosis
  • Hyperpigmentation
  • Increased cutaneous (but not systemic) mucopolysaccharide levels
  • In the autosomal recessive Paraná type, severe growth retardation and respiratory insufficiency leading to early death
  • Congenital fascial dystrophy
  • Diffuse, progressive hardening of the skin, usually starting in the gluteal region, beginning at birth or early infancy
  • Joint contractures
  • No systemic disease
  • Histologically, abnormally thickened fascia along with giant amianthoidlike fibrils and myofibroblasts
  • Restrictive dermopathy
  • Profound intrauterine growth retardation
  • Severe arthrogryposis (joint contractures)
  • Diffuse skin hardening
  • Pulmonary hypoplasia
  • Characteristic facies
  • Lethal in neonatal period
  • LMNA or ZMPSTE24 mutations

Wiedemann-Rautenstrauch syndrome findings are as follows [30] :

  • Onset at birth
  • Pseudohydrocephalus with wide sutures
  • Triangular facies
  • Aged appearance
  • Growth retardation
  • Generalized lack of subcutaneous fat
  • Prominent scalp veins
  • Sparse hair

DeBarsy syndrome findings are as follows:

  • Onset at birth
  • Aged appearance
  • Joint laxity
  • Loose, wrinkled skin
  • Hypotonia
  • Developmental delay
  • Ocular abnormalities (eg, strabismus, cataracts, myopia)

Berardinelli-Seip syndrome findings are as follows:

  • Onset at birth
  • Decreased subcutaneous fat/lipodystrophy
  • Pseudohypertrophy of muscles
  • Acanthosis nigricans
  • Hyperinsulinemia
  • Acromegaloid appearance
  • Hypertriglyceridemia

Donahue syndrome (leprechaunism) findings are as follows:

  • Onset at birth
  • Elfin facies
  • Hyperinsulinemia
  • Failure to thrive
  • Hypertrichosis
  • Acanthosis nigricans
  • Decreased subcutaneous fat
  • Loose skin
  • Prominent nipples
  • Insulin receptor gene mutation

GAPO (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome findings are as follows:

  • Onset age of 1-2 years
  • Growth retardation
  • Alopecia
  • Pseudoanodontia
  • Optic atrophy
  • Craniofacial dysmorphism
  • Coarse facies
  • Aged appearance
  • Joint laxity
  • Loose skin

Hallermann-Streiff syndrome findings are as follows:

  • Onset at birth
  • Brachycephaly
  • Mandibular hypoplasia
  • Beaked nose
  • Alopecia
  • Cutaneous atrophy of the face and scalp
  • Ocular abnormalities (eg, cataracts, nystagmus, microphthalmos)
  • Dental anomalies

Familial mandibuloacral dysplasia findings are as follows:

  • Onset age of 3-5 years
  • Alopecia
  • Beaked nose
  • Premature loss of teeth
  • Acroosteolysis
  • Dysplastic clavicles
  • Atrophy of extremity skin
  • Mandibular hypoplasia
  • Delayed cranial suture closure
  • LMNA mutations

Differential Diagnoses