Table 3.

Disorders to Consider in the Differential Diagnosis of Poikiloderma with Neutropenia

Gene(s)DisorderMOIFeatures of Disorder
Overlapping w/PNDistinguishing From PN
ACD
CTC1
DKC1
NAF1
NHP2
NOP10
PARN
POT1
RPA1
RTEL1
STN1
TERC
TERT
TINF2
WRAP53
ZCCHC8 		Dyskeratosis congenita & related telomere biology disorders XL
AD
AR 1
  • Poikiloderma
  • Acute myelogenous leukemia
  • Myelodysplasia
  • Nail dystrophy
  • Poikiloderma on upper chest/neck
  • Oral leukoplakia, pulmonary fibrosis. & short telomeres (on lab testing)
ANAPC1
RECQL4 		Rothmund-Thomson syndrome AR
  • Early-onset poikiloderma
  • Dental abnormalities
  • Nail dystrophy
  • Palmar/plantar hyperkeratosis
  • Skin SCC
  • Short stature
  • Sparse hair & eyebrows/lashes
  • Rash typically starts on face & spreads to extremities.
  • Skeletal defects (incl radial ray defects), GI disturbance, & cataracts
  • Osteosarcoma is the predominant cancer.
ELANE ELANE-related neutropenia ADCongenital neutropenia
  • Neutropenia is cyclic & severe.
  • Not assoc w/poikiloderma or nail dystrophy.
FAM111B Hereditary fibrosing poikiloderma w/tendon contractures, myopathy, & pulmonary fibrosis (POIKTMP) AD
  • Poikiloderma
  • Nail dysplasia
  • Palmar/plantar hyperkeratosis
  • Recurrent bronchitis
  • Short stature
  • Sparse/absent eyelashes &/or eyebrows
  • Thrombocytopenia, marrow hypocellularity
  • Poikiloderma is localized to face.
  • Hypohidrosis, muscle contractures, lymphedema of the extremities, myopathy, exocrine pancreatic insufficiency, & pulmonary fibrosis
FERMT1 Kindler syndrome epidermolysis bullosa 2AR
  • Poikiloderma
  • Blistering
  • Photosensitivity
  • Skin atrophy
  • Hyperkeratosis
  • Nail dystrophy
  • Loss of dermatoglyphics
  • Mucocutaneous SCC
  • Blistering is early onset & severe, while poikiloderma is later onset.
  • Generalized atrophy & oral mucosal fragility is prominent & may lead to strictures.

AD = autosomal dominant; AR = autosomal recessive; GI = gastrointestinal; MOI = mode of inheritance; PN = poikiloderma with neutropenia; SCC = squamous cell carcinoma; XL = X-linked

1.

The mode of inheritance of dyskeratosis congenita & related telomere biology disorders varies by gene (see Genetic Counseling in the Dyskeratosis Congenita and Related Telomere Biology Disorders GeneReview).

2.

From: Poikiloderma with Neutropenia

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