Table 2 Literature review concerning oral manifestations associated with hereditary sensory (and autonomic) neuropathy

2016

Eregowda et al. [56]

IV

NTRK1

India/ Indian

CR

1

11 y

F

Thermal insensitivity, anhidrosis, low intelligence, deformed interphalangeal joints of fingers, corneal scarring, skin infections, osteomyelitis

Oral self-mutilation, dental traumata

2015

Ravichandra et al. [13]

IV

NTRK1

India/

N/A

CR

1

7 y

F

Insensitivity to pain and temperature, anhidrosis, self-mutilation, preservation of other sensory modalities, recurrent fever

Orofacial self-mutilation, dental traumata

2015

Ashwin et al. [11]

IV

NTRK1

India/

N/A

CS

8

4–17 y

6 M

2 F

Insensitivity to pain, self-mutilation, recurrent fever, recurrent infection in the lower limbs

Oral self-mutilation

2015

Chen et al. [6]

VIII

PRDM12

Inter/

Inter

GA

21

3–40 y

13 M

8 F

Insensitivity to pain and temperature, hypohidrosis, self-mutilation behavior, skin and bone infections, painless fractures, corneal injuries, no mental retardation

Orofacial self-mutilation

2014

Özkaya et al. [57]

IV

NTRK1

Turkey/

N/A

CR

1

10 y

M

Recurrent fever, anhidrosis, ulcers on the skin, osteomyelitis, hyperkeratotic lesions on elbows and knees

Orofacial self-mutilation

2014

Guven et al. [44]

IV

NTRK1

Turkey/

Turkish descent

CS

2

1 y, 17 y

M

Insensitivity to pain and temperature, self-mutilation behavior, non-healing skin, ulcerations on the dorsum of the hands, anhidrosis, hypo- and hyper-pigmented skin

Orofacial self-mutilation

2013

Gao et al. [8]

IV

NTRK1

China/

N/A

CR

1

8 m

M

Recurrent fevers, anhidrosis,

dry warm skin, congenital corneitis

Oral self-mutilation, dental caries, malocclusion, cleft palate

2013

Fruchtman et al. [58]

IV

N/A

Israel/

N/A

CS

30

1 m–15 y

16 M

14 F

Infections, fever, orthopedic lesions

Orofacial self-mutilation

2010

Hutton and McKaig [45]

V

N/A

UK/

N/A

CR

1

6 y

F

N/A

Orofacial self-mutilation

2010

Zilberman et al. [46]

III

N/A

Israel/

N/A

HA

17

N/A

N/A

N/A

Thicker enamel formation

2009

Neves et al. [9]

IV

NTRK1

Brazil/

N/A

CR

1

2 y

F

Unexplained fever episodes, anhidrosis, self-mutilation behavior, mental retardation

Oral self-mutilation

2009

Paduano et al. [59]

IV

N/A

Italy/

Italian descent

CR

1

8.11 y

M

Self-mutilation, recurrent fever, osteomyelitis

Oral ulcers, limited mouth opening

2008

Romero et al. [60]

IV

N/A

Spain/

N/A

CR

1

22 m

F

Self-mutilation, recurrent fever

Orofacial self-mutilation

2008

Singla et al. [47]

V

N/A

India/

Indian descent

CR

1

10 y

M

Insensitivity to pain, normal response to thermal stimuli, bilateral corneal opacities, hypoplasia of the nipples

Presence of severe maxillary ridge resorption, congenitally missing permanent teeth

2006

Butler et al. [25]

IV

NTRK1

Ireland/

N/A

CR

1

9 m

M

Self-mutilation injuries on wrist and feet, insensitivity to pain, normal reaction to thermal stimuli

Orofacial self-mutilation

2006

Schalka et al. [27]

IV

N/A

Brazil/

Caucasian

CR

1

16 m

F

Lack of painful stimuli, episodes of unexplained fever, hypohidrosis

Orofacial self-mutilation

2006

Siqueira et al. [48]

V

N/A

Brazil/

N/A

CS

2

22 y, 16 y

1 M

1 F

Insensitivity to pain, self-mutilation behavior

Orofacial self-mutilation

2003

Bonkowsky et al. [12]

IV

NTRK1

USA/

Northern European

CR

1

4 m

M

Hyperkeratosis on palms, skin fissuring

Orofacial self-mutilation

2002

Mass et al. [52]

III

N/A

Israel/ Ashkenazi-Jewish descent

CS

28

N/A

N/A

N/A

Low levels of mutans streptococci and lactobacilli in saliva, high salivary flow

2002

Wolf et al. [61]

III

N/A

Israel/ Ashkenazi-Jewish descent

CS

46

6–16 y

31 M

15 F

Impaired pain perception, skeletal deformities, small stature, failure to thrive, recurrent pneumonia, orthostatic hypotension

Progressive degeneration of tongue fungiform papillae and taste buds, impaired taste, excessive drooling, impaired swallowing

2000

Theodorou et al. [62]

IV

N/A

Greece/

N/A

CR

1

4 y

M

Insensitivity to pain, self-mutilation, bone fractures, anhidrosis, mental retardation

Orofacial self-mutilation

2000

Erdem et al. [49]

IV

N/A

Turkey/

N/A

CR

1

10 y

M

Acute tibia osteomyelitis, broken finger tips

Malformed oral configuration, orofacial self-mutilation

1999

Kim et al. [50]

IV

N/A

Korea/

N/A

CR

1

16 m

M

Self-mutilation, fever, anhidrosis, generalized tonic-clonic seizures

Orofacial self-mutilation

1998

Amano et al. [7]

IV

N/A

Japan/

Asian

CS

18

1–22 y

12 M

6 F

Self-mutilation behavior, insensitivity to pain, anhidrosis, infections, malnutrition

Orofacial mutilation, premature loss of teeth, intraoral scars and ulcers, severe bruxism, dental traumata, halitosis

1998

Rodd et al. [51]

II

N/A

UK/

Asian

CR

1

4 y

M

Sensory loss affecting all modalities of sensation predominantly involving the limbs, mutilation, anhidrosis, acropathy of finger tips and feet

Full-thickness loss of the tongue tip, tissue loss from the lower lip, loss of pain sensation

1998

Mass et al. [63]

III

N/A

Israel/ Ashkenazi-Jewish descent

CS

32

5.8–19.8 y

17 M

15 F

Decreased pain sensation, impaired temperature and blood pressure regulation, alacrima, absent tendon reflexes

Orofacial self-mutilation, dental traumata, low caries index, hypersalivation, absence of the fungiform papillae on the tongue

1996

Mass et al. [64]

III

N/A

Israel/ Ashkenazi-Jewish descent

CS

20

5–39 y

14 M

6 F

Decreased pain sensation, impaired temperature and blood pressure regulation, alacrima, absent tendon reflexes

Orofacial self-mutilation

1994

Mass and Gadoth [65]

III

N/A

Israel/ Ashkenazi-Jewish descent

CS

38

N/A

23 M

15 F

Decreased pain sensation, impaired temperature and blood pressure regulation, alacrima, absent tendon reflexes

Dental traumata

1992

Mass et al. [66]

III

N/A

Israel/ Ashkenazi-Jewish descent

CS

66

N/A

N/A

Decreased pain sensation, impaired temperature, impaired blood pressure regulation, absent tendon reflexes, alacrima

Orofacial self-mutilation, dental traumata, low caries index, hypersalivation, absence of the fungiform papillae on the tongue

1989

Kouvelas and Terzoglou [28]

IV

N/A

Greece/

N/A

CR

1

5.5 y

M

Insensitivity to pain, self-mutilation, fever, anhidrosis

Orofacial mutilation

1987

Brahim et al. [67]

IV

N/A

USA/

N/A

CR

2

11 y,

7 y

M

Self-mutilation, fever, anhidrosis, osteomyelitis

Orofacial mutilation

1986

Thompson et al. [68]

III

N/A

USA/

Caucasian

CR

1

31 y

M

Insensitivity to pain, blotching of skin, diminished lacrimation

Orofacial mutilation (including auto-extraction of teeth), diminished taste sensation

2016

Zhang et al. [30]

VIII

PRDM12

N/A

CS

5

23–57 y

4 M

1 F

Insensitivity to pain, normal neurological examinations and intellect, corneal abrasions, lack of tear production, recurrent infections, unexplained self-mutilation

Unexplained orofacial mutilation

2015

Haga et al. [5]

IV, V

NTRK1, NGFB

Japan/

N/A

RA

N/A

N/A

N/A

Repeated fractures, joint dislocations, arthritis, osteomyelitis, avascular necrosis, Charcot arthropathy

Oral self-mutilation (including auto-extraction of teeth)

2014

Kumar et al. [69]

IV

NTRK1

India/

N/A

RA

N/A

N/A

N/A

N/A

Orofacial self-mutilation, premature loss of teeth, osteomyelitis, fractures of the jaws

2013

Limeres et al. [26]

IV

N/A

Spain/

N/A

RA

N/A

N/A

N/A

N/A

Oral self-mutilation (including auto-extraction of teeth)

2012

Mass [70]

III

IKBKAP

N/A /

N/A

RA

N/A

N/A

N/A

Insensitivity to pain and temperature, vasomotor instability, respiratory distress, orthostatic hypotension, insensitivity to hypoxia, decreased deep tendon reflexes, alacrima

Absence of fungiform papilla, dental traumata, orofacial self-mutilation, proportionally small jaws, crowding of teeth, low caries rate, hypersalivation, impaired taste sensation

2003

Nagasako et al. [71]

HSAN IV

N/A

USA/

N/A

RA

N/A

N/A

N/A

Insensitivity to pain, self-mutilation, painless fractures, fever, hypohidrosis

Orofacial self-mutilation