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Table 1 Clinical features of the investigated PN patients

From: Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Patients

 

#25

#16

#17a

#17b

#21[23]

#26[24]

#11

Gender

 

F

M

M

F

F

M

F

Date of birth

 

2010

2000

1993

1983-1993

1989

1988

1974

Geographic origin

 

US

Turkey

Turkey

Turkey

Italy

Turkey

Algeria

Clinical signs

poikiloderma

yes

yes

yes

yes

yes

yes

yes

 

onset

5 months

6 months

5 months

infancy

6 months

6 months

at birth

 

first localization

extremities

extremities

extremities

extremities

feet, hands, knee

widespread

n.d.

 

photo-sensitivity

n.d.

no

no

n.d.

yes

yes

n.d.

 

palmo-plantar lesions

palmo-plantar xerotic erythema

plantar hyper-keratosis desquamation

palmo-plantar hyper-keratosis

palmo-plantar bullous changes

palmo-plantar and knee hyper-keratosis

n.d.

palmo-plantar hyper-keratosis

 

nail abnormalities

multiple nails with distal onycholysis

pachyonychia

toes nails subungueal hyper-keratosis

n.d.

nail dystrophy

digit dystrophy; toes anonychya

big toes

 

dental defects

 

caries tendency

dental eruption delay; caries tendency

n.d.

dental eruption delay

n.d.

n.d.

 

craniofacial dysmorphisms

caput quadratum; prominent forehead

saddle nose

saddle-short nose; flat broad face; caput quadratum; retrognathia

n.d.

saddle nose, triangular face

maxillary hypoplasia; saddle nose; micrognathia

n.d.

 

skeletal defects

not apparent at chest X-ray

widening of femoral metaphysis

 

n.d.

osteopetrosis at 2 m; increased bone density; sclerosis of vertebrae and skull; delayed skeletal maturation

zygodactyly between 2nd and 3rd digit; osteopenia of all bone structures

presence of calcification; multiple bone fractures

 

haematological features

neutropenia

persistent leukopenia

leukopenia; MDS; splenomegaly

n.d.

severe anemia; neutropenia; responsive to GCSF

neutropenia

neutropenia; chronic haemolysis

 

recurrent infections

viral hepatitis (1 month); S. bovis bacteremia (3 months)

pneumonia

pneumonia; meningitis

multiple infections

dental abscess; severe sepsis; pneumonia; broncho-pneumonia

recurrent leg ulcers with severe sepsis

infections since infancy

 

growth delay

n.d.

low stature (< 3rd centile)

low stature (< 3rd centile)

n.d.

low stature

low stature

n.d.

 

sexual development

n.d.

normal

hypo-gonadism

n.d.

n.d.

secondary sex features poorly developed; hypo-gonadism

n.d.

 

others

pulmonic stenosis; prolonged QT at ECG; hypoglycemia

n.d.

miscarriage; hyper-keratosis on ear helixes; dry scalp hair

miscarriage; congenital heart disease; died at 10 years

thin hair

n.d.

atrophic polychondritis

  1. n.d. = not detected