Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature

Elhennawy, Karim; Reda, Seif; Finke, Christian; Graul-Neumann, Luitgard; Jost-Brinkmann, Paul-Georg; Bartzela, Theodosia

doi:10.1186/s13256-017-1387-z

Journal of Medical Case Reports

Table 1 Classification of recent types and subtypes of hereditary sensory (and autonomic) neuropathy

From: Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature

Types of HSAN	OMIM	Inheri.	Onset	Clinical characteristics	Somatosensory modalities	Sweating	Genes/ locus
HSAN-IA [2, 25, 28, 33, 34]	162400	AD	Mostly adolescence to adulthood	Hearing loss, loss of distal reflexes/distal muscle weakness, (no autonomic dysfunction)	Loss of pain and temperature sensation, lancinating pain	Normal	SPTLC1/9q22.31
HSAN-IB [2,34,, 25, 28, 33–35]	608088	AD	Adulthood	Chronic cough, gastropharyngeal reflux, hearing loss, alacrima, impotence	Sensory loss, lancinating pain	Normal to mild distal hypohidrosis	SPTLC1/3p24-p22
HSAN-IC [2, 25, 28, 33, 34, 36]	613640	AD	Mostly adulthood	Ulcerative mutilations, variable distal motor involvement, distal muscle weakness, osteomyelitis	Loss of pain, lancinating pain, loss of temperature sensation in parts of the body, sensory loss in the upper and lower limbs	Normal	SPTLC2/14q24.3
HSN-ID [2, 25, 28, 33, 34, 37]	613708	AD	Adulthood	Ulcerative mutilations, trophic skin and nail changes, distal amyotrophy in the lower limbs	Distal sensory loss of the lower limbs	Normal	ATL1/14q22.1
HSN-IE [2, 25, 28, 33, 34, 38]	614116	AD	Adulthood	Ulcerative mutilations, hearing loss, dementia	Loss of all somatosensory modalities, lancinating pain	Normal	DNMT1/19p13.2
HSN-IF [2, 25, 28, 33, 34, 39]	615632	AD	Adulthood	No autonomic involvement, diminished tendon reflexes, painless ulceration of the feet	Distal sensory loss of the lower limbs	Normal	ATL3/11q13.1
HSAN-IIA [2, 25, 28, 33, 34, 40]	201300	AR	Childhood	Self-mutilation behavior resulting in extensive orofacial injuries, weakness, acropathy	Loss of pain, temperature and touch sensation, no autonomic dysfunction	Normal	WNK1/12p13.33
HSAN-IIB [2, 25, 28, 33, 34, 41]	613114	AR	Childhood	Ulcerative mutilation of hands, feet, and orofacial structures, osteomyelitis, urge incontinence	Impaired nociception	Hyperhidrosis	FAM134B/5p15.1
HSN-IIC [2, 25, 28, 33, 34, 42]	614213	AR	Childhood to adolescence	Ulcerative mutilation and orofacial injuries, absent deep tendon reflexes, minor distal weakness, distal numbness of the hands and feet	Impaired position vibration senses	N/A	KIF1A/2937.3
HSAN-IID [2, 4, 25, 28, 33, 34, 43]	243000	AR	Congenital or adolescence	Autonomic nervous dysfunction, hearing loss, hyposmia, bone dysplasia, orofacial self-mutilation injuries	Loss of pain and temperature sensation, hypogeusia	Hypohidrosis	SCN9A/2q24.3
HSAN-III [2, 26, 29, 33, 34, 44, 58 63–66]	223900	AR	Congenital	Profound autonomic dysfunction, vasomotor instability, absence of deep tendon reflexes, alacrima, impaired blood pressure regulation, failure to thrive, orofacial self-mutilation, absent fungiform papillae on the tongue, increased salivation, low caries index	Loss of pain and temperature sensation	Hyperhidrosis	IKBKAP/9q31.3
HSAN-IV [2,45,46,47,48,49,50,, 8, 9, 11, 13, 14, 26, 28, 29, 34, 35, 44–51]	256800	AR	Congenital	Self-mutilation with orofacial injuries, deep tendon reflexes usually intact, recurrent fever, corneal lesions, mental retardation, recurrent infections, skin hyperkeratosis and fissuring, generalized tonic-clonic seizures	Loss of pain and temperature sensation	Hypohidrosis to anhidrosis	NTRK1/1q23.1
HSAN-V [2, 26, 29, 34, 35, 52]	608654	AR	Congenital	Similar to HSAN IV	Loss of pain and reduced thermal sensation, loss of deep pain perception	Normal to hypohidrosis	NGFB/1p13.2
HSAN-VI [33, 53]	614653	AR	Congenital	Lack of psychomotor development, autonomic abnormalities, absence of deep tendon reflexes, feeding and respiratory difficulties, neonatal hypotonia, alacrima, blotching	Loss of pain and temperature sensation	N/A	DST/6p12.1
HSAN-VII [33, 54, 55]	615548	AD	Congenital	Self-mutilation, painless fractures, delayed motor development, gastrointestinal dysfunction	Loss of pain sensation	Hyperhidrosis	SCN11A/3p22.2
HSAN-VIII [6, 30]	616488	AR	Onset in infancy	Self-mutilation behavior with orofacial injuries, painless fractures, skin and bone infections, corneal injuries, no mental retardation	Reduced pain and temperature sensation	Hypohidrosis	PRDM12/9q34.12
HSN with spastic paraplegia [33, 34]	256840	AR	Early childhood	Mutilation acropathy, septic paraplegia	Loss of all somatosensory modalities	Normal	CCT5/5p15.2

AD autosomal dominant, AR autosomal recessive, ATL1 atlastin GTPase 1, ATL3 atlastin GTPase 3, CCT5 chaperonin TCP1 subunit 5, DNMT1 DNA (cytosine-5-)-methyltransferase 1, DST dystonin, FAM134B family with sequence similarity 134 member B, HSAN hereditary sensory and autonomic neuropathy, HSN hereditary sensory neuropathy, IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells kinase complex-associated protein, Inheri. mode of inheritance, KIF1A kinesin family member 1A, N/A not available, NGFB nerve growth factor (beta polypeptide), NTRK1 neurotrophic tyrosine kinase-1 receptor, OMIM Online Mendelian Inheritance in Man, PRDM12 PR domain-containing protein 12, SCN9A sodium channel, voltage gated type IX alpha subunit, SCN11A sodium channel, voltage gated, type XI alpha subunit, SPTLC1, serine palmitoyltransferase long chain base subunit 1, SPTLC2, serine palmitoyltransferase long chain base subunit 2, WNK1 WNK lysine deficient protein kinase 1

Back to article page

ISSN: 1752-1947

Contact us

Submission enquiries: Access here and click Contact Us
General enquiries: info@biomedcentral.com