Skip to main content

Table 1 Clinical and molecular data of affected individuals affected

From: Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

Characteristics   Individual F1a Family F2a Individual F3a Individual F4a Individual F5 Individual F6 Individual F7 Individual F8 Individual F9 Family F10a
   Origin: France Origin: Algeria Origin: Italy Origin: France/Morocco Origin: France Origin: Ireland Origin: Dominican Republic Origin: France Origin: France South-Africa
  Sex M M (proband) M (son) F F F F M M M F (proband) M (father) M (brother) M (brother)
  Age at last examination 10 yrs 32 yrs 8 months 13 yrs 9 yrs 4 yrs 5 yrs 23 yrs 8 yrs Death: 40 yrs 26 yrs Death: 56 yrs Death: 30 yrs 31 yrs
  Consanguinity No Yes No No No No No No No No No No No No
General Growth retardation/Hypotrophy (height; weight) No 165 cm (−1.7 SD); 40 kg (BMI:14.7) No 145 cm (−1.5 SD); 30 kg (BMI: 14.3) 120 cm (−1.9 SD); 15.8 kg (BMI:11) 102 cm (+0.2 SD); 14 kg (BMI:13.5) 91.3 cm (−3.9 SD); 12.3 kg (BMI:14.8) No No 163 cm (−2.1 SD); 53 kg (BMI:19.9) No No No No
  Delayed puberty n/a Yes (17 yrs) n/a Yes n/a n/a n/a No n/a No n/a n/a n/a n/a
  Normal IQ Yes Yes n/a Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes
  Psychiatric disorders No No n/a No No No No No No Schizophrenia No No No No
Skin Poikiloderma (early childhood) Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes
   - Face Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes
   - Exposed area/photosentivity Yes Yes Yes Yes Yes Yes No Yes Yes Yes Yes Yes Yes Yes
   - Upper and/or lower limbs Yes Yes No Yes Yes Yes Yes Yes Yes No Yes Yes Yes Yes
  Bullous lesions Yes No No No No No Yes No No No No No No No
  Eczema-like Yes Yes Yes No Yes Yes Yes No No No No No No No
  Ichthyosis-like No No No No No Yes No No No Yes     
  Psoriasis-like No No No No Yes No No No No No No No No No
  Blaschko linear hypo/hyperpigmentation No No No No No Yes No Yes No No No No No No
  Lymphoedema of extremities Yes No No Yes Yes Yes Yes Yes No Yes No No No No
  Cellulitis Yes No No Yes No No Yes No No No No No No No
  Sclerosis of the digits No Yes No No No No No No No No Yes n/a n/a Yes
  Palmoplantar abnormalities No No No No No Palmar erythrosis and palmoplantar keratoderma No No Palmar erythrosis Palmoplantar keratoderma     
  Hypohidrosis/Heat intolerance Yes Yes Yes n/a Yes Yes Yes Yes No n/a Yes Yes Yes Yes
Hair Hypotrichosis/Alopecia Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes n/a n/a Yes
  - Scalp hair Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes
  - Eyebrows Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes
  - Eyelashes Yes Yes Yes Yes Yes Yes Yes Yes Yes Yes No No No No
Nails Dysplasia No No No Yes No No Yes Yes No No Yo No No No
Muscle Muscle weakness (Age at onset) Yes (7 yrs) Yes (11 yrs) No Yes (4y) Yes (14 months) No Yes (infancy) Yes (2 yrs) Yes (8 yrs) No Yes (9 yrs) n/a n/a n/a
   - Proximal lower limbs Yes yes No Yes Yes No Yes Yes Yes No n/a n/a n/a n/a
   - Distal lower limbs Yes Yes No Yes Yes No No Yes Yes No n/a n/a n/a n/a
   - Proximal upper limbs Yes Yes No Yes Yes No No Yes No No n/a n/a n/a n/a
   - Distal upper limbs Yes Yes No Yes Yes No No Yes No No n/a n/a n/a n/a
   - Neck: extensors/Sternocleidomastoid (SCM) No Yes (SCM), trunk extensors, abdominal muscles No n/a Yes No No Yes No No n/a n/a n/a n/a
  Amyotrophy Yes Yes No Yes Yes No No No No No n/a n/a n/a n/a
  Abolition of lower limb tendon reflex No (weak reflexes) Yes No Yes Yes No n/a Yes No No n/a n/a n/a n/a
  Tendon lengthening (age) Yes (7 yrs) Yes (11 yrs) No Yes (13 yrs) No No No No No No Yes (14 yrs) No Yes (5 yrs) No
Joints Lower limbs contractures(Age at onset) Triceps surae (6 yrs) Triceps surae (7 yrs) No Triceps surae Triceps surae (2 yrs) Hamstring (7 yrs) Triceps surae (3 yrs) Triceps surae (4 yrs) No Triceps surae (7 yrs) No Triceps surae n/a n/a No
  Triceps surae muscle/Hamstring muscle               
  Upper limb contractures No Biceps brachii (2–3 yrs) Carpal extensor No Yes Yes No No Yes (identified at age 23) No No No n/a n/a No
  Biceps brachii and carpal extensors               
Spine Scoliosis No Yes No Yes No No No No No No No No No No
Oral sphere Dysphagia/Velopharyngeal insufficiency No Yes No n/a Yes No No Yes No No n/a n/a n/a n/a
Liver Hepatomegaly No No No Yes No No No No No No No No No No
Pancreas Steatorrhea/Exocrine insufficiency Yes n/a n/a n/a No Yes Yes Yes No No n/a n/a n/a n/a
Eye Cataract No No No Yes No No No No No No No No No No
  Other No No No No No No No Shallow orbits with mild restriction of medial rectus action OU; right macular pigmentary changes No Corneal thickness No No No No
Blood test SCK (UI/l) (maximum) N 460 n/a 500 340 370 N 372 n/a N n/a n/a n/a n/a
  Blood count abnormalities (maximum) Eosinophilia 1.5 × 10e9/L N n/a N Eosinophilia 0.8 × 10e9/L N Eosinophilia 0.9 x 10e9/L PLT count: 78 x 10e9/L, MCV: 98.4 fL N N n/a n/a n/a n/a
  Liver function n/a N n/a Cholestasis n/a SGOT: 63 IU/L (<53); SPGT: 56 IU/L (<36); ALP: 308 IU/L (<335); GGT: 53 IU/L (<26) SGOT:210 IU/L (<40); SGPT: 151 IU/L (<35); ALP: 772 IU/L (<315); Bili: 33 mmol/l (<14) SGOT: 100 IU/L (<38); SGPT: 132 IU/L (<41); ALP:129 IU/L (<129); GGT:106 IU/L (<58) n/a n/a n/a n/a n/a n/a
Muscle exploration EMG: myogenic Yes n/a n/a Yes Yes n/a n/a N n/a n/a n/a n/a n/a n/a
  MRI/CT-scan Adiposis (MRI) Adiposis (MRI) n/a n/a n/a n/a n/a Atrophy of paraspinal and rectus abdominis muscles (CT scan) n/a Adiposis (MRI) n/a n/a n/a n/a
Lung exploration PFT (pulmonary Function Test): Restrictive syndrome Yes (asthma) Yes n/a n/a Yes n/a Yes Yes Yes (poor participation) Yes Yes Yes Yes No
  - FVC (% of predicted) 1.61 L (83 %) 1.82 L (42 %) n/a n/a 38 % n/a 53 % 64 % 1.33 L (86 %) 1.47 L (36 %) 78 % n/a 34 % 91 %
  - FEV1 (% predicted) 1.25 L/min (73 %) 2.02 (44 %) n/a n/a n/a n/a 56 % n/a 1.32 L/min (101 %) 1.15 L/min (34 %) n/a n/a 37 % n/a
  - FEV1/FCV (%) 78 % 111 % n/a n/a n/a n/a N n/a 99 % 78 % 86 % n/a 90 % 76 %
  - DLCO n/a 41 % n/a n/a 51 % n/a n/a n/a 0.87 (64 %) Not feasible 67 % n/a 34 % 88 %
  PET/CT-scan n/a No pulmonary fibrosis (CT scans) n/a n/a No fibrosis n/a No fibrosis No pulmonary fibrosis; presence of a nodule n/a Pulmonary fibrosis, slightly hypermetabolic lesions n/a n/a n/a n/a
Pathology Peripheral muscle Adiposis Dystrophy, fibrosis, adiposis n/a Dystrophy, fibrosis, adiposis Fibrosis, adiposis n/a n/a Fibroadipose replacement, endomysial fibrosis, atrophic and hypertrophic fibers, central nuclei n/a n/a n/a n/a Fatty infiltration n/a
  Skin Sclerodermiform aspect, Elastin anomalies n/a n/a n/a RTS-like n/a Hyperkeratosis, parakeratosis, hypergranulosis, acanthosis, spongiosis. Numerous apoptotic keratinocytes. n/a n/a n/a n/a n/a Sclerodermiform aspect, fibrosis, elastic tissue degeneration n/a
  Visceral organs n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a Pulmonary fibrosis Pulmonary, esophageal and mediastinal lymph node fibrosis, pancreas fatty infiltration n/a
  Vasculature n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a n/a Elastic degeneration, medial calcification n/a
Gene analysis RECQL4 No mutation No mutation n/a No mutation No mutation No mutation No mutation No mutation No mutation No mutation n/a No mutation No mutation n/a
  Other genes No CAPN3, LMNA, CAV3 (no mutation) No No SMN1 (no mutation) No No CLCN1- c.2509-3C > T (intronic between exons 22 and 23); c.2926 C > T (p.976 R > X, nonsense mutation) No No No No No No
  FAM111B c.1879A > G (p.Arg627Gly) c.1879A > G (p.Arg627Gly) c.1879A > G (p.Arg627Gly) c.1879A > G (p.Arg627Gly) c.1883G > A (p.Ser628Asn) c.1883G > A (p.Ser628Asn) c.1883G > A (p.Ser628Asn) c.1883G > A (p.Ser628Asn) c.1874C > A (p.Thr625Asn) c.1289A > C (p.Gln430Pro) c.1861 T > G (p.Tyr621Asp) n/a c.1861 T > G (p.Tyr621Asp) c.1861 T > G (p.Tyr621Asp)
  Inheritance De novo De novo Paternal inheritance n/a No maternal inheritance De novo De novo De novo de novo n/a Paternal inheritance n/a Paternal inheritance Paternal inheritance
  1. aIndividuals F1, proband F2, F3 and F4 were described in the initial report as individuals F1-II2, F2-II4, F3-II1 and F4-II1, respectively [6]
  2. The following abbreviations are used: ALP alkaline phosphatase, Bili bilirubin, BMI body mass index, DLCO diffusing capacity of the lung for carbon monoxide, EMG electromyography, FEV1 forced expiratory volume, FVC forced vital capacity, GGT gamma-glutamyl transpeptidase, MCV mean corpuscular volume, N normal, n/a not available, MRI magnetic resonance imaging, PET/CT-scan positron emission tomography/computed tomography scan, PFT pulmonary function test, PLT platelet, RTS Rothmund-Thomson syndrome, SCK serum creatine kinase, SCM sternocleidomastoid muscle, SGOT serum glutamate oxaloacetic transaminase, SGPT serum glutamate pyruvate transaminase