|Year : 1994 | Volume
| Issue : 6 | Page : 335-336
Hereditary sensory neuropathy
S Mishra, PC Singh
Source of Support: None, Conflict of Interest: None
Three cases of hereditary sensory neuropathy are reported. Two of them belong to same parents with family history of this disease.
Keywords: Sensory neuropathy, Acro-osteolysis, Leprosy
|How to cite this article:|
Mishra S, Singh P C. Hereditary sensory neuropathy. Indian J Dermatol Venereol Leprol 1994;60:335-6
| Introduction|| |
Hereditary Sensory Neuropathy - also known as Thevenard Syndrome, Familial acroosteolysis, is a rare familial disorder characterised by appearance in childhood or early adult life of analgesia of lower limbs with neuropathic sequelae and often associated with nerve deafness. The process is purely osteolytic without any evidence at bone regeneration which gradually extends proximally and eventually involves other acral bones.  Shortening of foot is characteristic.
| Case Report|| |
Two children (Case - I, II) one sister and one brother, of same family were seen with recurrent ulceration and gradual mutilation of feet. Their parents were normal, but their late paternal grandmother also suffered from same type of disease of both feet. They are the only two children of their parents. Case - III, not related to Case - I, II, presented with recurrent ulcer and shortening of right foot.
The eldest child, a girl of 15 years of age, presented with non-healing ulcers under great toe and second toe of right foot and shortening of right great toe. She is having such recurrent ulcers on right foot since she was eight years old. Left foot and upper extremities are normal. On examination of right foot there is an ulcer 1.5 cm x 1 cm size on plantar aspect of great toe. Another ulcer 1 cm x 0.5 cm was on plantar aspect of second toe. The ulcers were painless. Sensations of pain, temperature and touch were completely lost upto ankle joint. Motor functions including reflexes were normal. There was no wasting of muscles. There was no nerve deafness. Sensations and motor functions in left lower limb and upper extremities were normal. There" was no hypopigmented or erythematous patch on body. Peripheral nerves were not thickened, not tender. Lacrimation and sweating were normal. Systemic examination did not reveal any disease.
Routine blood, stool, urine examination were normal. FBS 80 mg / dl, blood VDRL test - nonreactive. Nerve conduction, nerve biopsy and muscle biopsy could not be done due to objection of the patient. Slit skin smear for AFB from ear lobes, right leg was negative. X'ray right foot showed irregular destruction around metatarso-phalangeal joint area of 1 and 2 toe. X'ray left foot was normal.
The younger child, 13 years old boy, developed spontaneous ulcers on sole of left foot when he was six years old. Gradually small ulcers developed on toes of both feet. There was no loss of digits but there were healed scars and shortening of toes with deformity of both feet. Upper extremities were normal.
General physical examination, higher functions, cranial nerves were normal. There was no hypopigmented or erythematous patch on body. Peripheral nerves were normal. Sensation of touch, pain and temperature were lost in both feet. There are ulcers on plantar aspect of toes of both feet with shortening of both the great toes. Systemic examination did not reveal any disease. Routine blood, stool and urine examination were normal. Slit skin smear for AFB from earlobes, both legs-negative. Nerve condution, nerve biopsy could not be done as in first case. X'ray - irregular destruction of phalanges and distal part of metatarsal bones of both feet.
Married lady of 35 years of age, having two children, presented with recurrent ulcers on right foot. Her children were normal. There is no family history of such disease. She is having such ulcers since last ten years. On examination, left leg, and upper extremities are normal. There is no clinical evidence of leprosy as in other two cases. Sensation of pain, touch and temperature were lost in right foot upto ankle joint. There were 3 ulcers on planter aspect of right foot near metatarsophalangeal joints with shortening of the foot.
Routine blood, stool and urine examination were normal. FBS 80 mg / dl. VDRL test non-reactive. Nerve condution, nerve biopsy could not be done due to objection of the patient. X'ray right foot revealed osteolytic changes in phalanges and distal part of metatarsal bones.
| Discussion|| |
Familial acro-osteolysis have been described by Smith  and Heller et al .  Behera et a1  reported two brothers in a family having recurrent ulcer and mutilation feet. In the elder one there was autoamputation of right foot upto the ankle joint. Gurvinder et als reported 6 cases of familial acro-osteolysis in 15 members of 3 generations of a family. The inheritance pattern was autosomal dominant.
The exact aetiology is unknown. The basis is a hereditary degeneration of certain of the craniospinal ganglion. The sensory neurons that connect centrally with spinothalamic tract are particularly affected. Cheney  postulated a process of vascular bone resorption associated with ingrowing of capillaries, the bone being resorbed ahead of advancing vessels producing ischaemic necrosis of bone.
Thevenard syndrome is to be differentiated from leprosy. Many cases are misdiagnosed as leprosy and bear a social stigma. It is also to be differentiated from congenital absence of pain where sensations other than pain are well appreciated.
| References|| |
|1.||Thevenard A L. Acropathic Ulcero-mutilante familiala. Acta Neurol Belg 1953; 52 : 1-24. |
|2.||Smith E M. Familial neuropathic oesseous atrophy. JAMA 1934; 102 : 593. |
|3.||Heller I H, Rebb P. Hereditary sensory neuropathy. Neurology 1955; 5 : 15-29. |
|4.||Behera D K, Prusty P, Mishra S, Rath P C. Hereditary sensory neuropathy. The Journal of Orissa Orthopaedic Association 1989; 11 33-6. |
|5.||Gurvinder P Thami, Sharma S C, Bhargava S K, Singal A, Gautam R K, Baruah M C. Familial acro - osteolysis through three generations. Ind J Dermatol Venereol Leprol 1993; 59 : 284-7. |
|6.||Cheney W D. Acro - osteolysis. Am J Roentgen 1965; 94 : 595. |
|This article has been cited by|
||Early onset hereditary sensory autonomic neuropathy type I and not leprosy
| ||Pande, S., Kharkar, V., Mahajan, S., Khopkar, U. |
| ||Indian Journal of Dermatology. 2009; 54(5 Suppl): S1-S4 |