Clinical manifestations of congenital insensitivity of the hand and classification of syndromes

Lesions of the upper extremity, particularly of the hand, are common in congenital insensitivity syndromes. Five cases are described with findings including fractures, infections, stiffness of fingers, self-mutilation, and traumatic amputations. The best form of treatment is preventative, since reconstructive surgery has little to offer. If conservative efforts are of no avail, amputation of the part is, unfortunately, the best way to obtain satisfactory results. (J HAND SURG 9A:863-9, 1984.)

Frank Winston Gwathmey, M.D., and James Herbert House, M.D., Norfolk, Va., and Minneapolis, Minn.

T here are certain rare congenital disor­ders that render part or all of a person insensitive to various external stimuli. Most attention has focused on the inability to recognize certain stimuli as painful and thus harmful. Patients so characterized will often pre­sent with problems arising mainly in the parts that bear weight. These problems include microfractures, frac­tures, osteomyelitis, neuropathic joints, and aseptic necrosis .

This article presents the manifestations of congenital insensitivity of the hand and reports five individuals so afflicted.

Manifestations of insensitivity in the hand

In sensory-deprived patients, major problems re­volve around the peculiar habit of self-mutilation. This begins in the oral stage, when the child is constantly introducing objects into the mouth with the fingers. Without the protective mechanism of pain, a child may actually chew off the tip of the finger and even continue up the finger. In some the practice stops as this phase of development is passed. In others it continues, possibly because there may be fifth nerve sparing and oral stimu­lation may be the only method of sensory gratification available to the child. Until the child learns self-

From the Department of Orthopaedics, University of Minnesota.

Received for publication June 4, 1982; accepted in revised form Feb. 27, 1984.

Reprint requests: Frank W. Gwathmey, M.D., Associate Professor of Orthopaedics , Eastern Virginia Medical School, 601 Medical Tower, Norfolk, VA 23507.

protection through the use of intellect, the constant use of gloves or even dental extraction may be the only way to preserve the fingers. The essential aspect of treat­ment is early diagnosis so that appropriate protection may be provided.!

Daily activities of life, such as manipulative tasks or exposure to extreme temperatures, can easily cause ir­reparable damage. Khan and Peterkin2 reported a child who suffered from frostbite of the fingers every winter because, although he was aware of the cold and devel­oped goose bumps in response to it, he did not mind it and would not change his gloves when they got wet. His fingers became stubby and developed radiographic evidence of destruction of the terminal phalanges.

Infection is a common problem because of repeated trauma before healing can occur. Constant wear and tear continues until degenerative changes and destruc­tion take place. Gwynn et al. 3 reported a boy whose thumbs and index fingers had been infected since in­fancy. There was shortening and loss of bone on x-ray examination.

Typical radiographic findings~ -7 are either shortened or absent phalanges that are widened at the base and have areas of osteolysis (Figs. I to 3). There may be marginal hypertrophy because of joint injuries or actual joint destruction. Evidence of previously unrecognized fractures may be present.

Fractures in these patients will heal normally. How­ever, the injury may not be recognized by the patient and nonunion may ensue. Anesthetic skin may preclude external immobilization. Operative repair is probably indicated even in children . In our case 3 and in a case

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Fig. 1. Radiographs show widening of the proximal phalanx of the long finger, osteolysis of the tufts of the long finger and thumb, and amputation through the distal phalanx of the index finger.

Fig. 2. Osteolysis of terminal tuft of the small finger and thumb.

presented by Gaudier et al. ,f' there were previously un­recognized fractures of both bones of one of the forearms, each showing obvious nonunions.

Problems arising in the hand that require treatment frequently preclude reconstruction, since the part will be subjected to the same continuing destructive pro­cesses. Digital amputation is the most common surgical treatment.

Fig. 3. Amputation through distal phalanx of the index finger, with premature closure of physis.

In some patients, there may be areas of sparing of sensory appreciation. Should this occur in the ulnar fingers, a neurovascular island transfer can be per­formed to move sensitive skin to the thumb and index finger.

In all these problems, the treatment of choice is pre­vention. This entails parental education and psy­chologic counseling. If the child can be protected for the first decade, bizarre mutilations may be avoided.

Case reports

Case 1. At birth, R. W. was noted to have ptosis of the left eye, partial left facial paralysis, and left paraplegia that cleared by 18 months. He chewed his finger tips such that they constantly had sores.

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Fig. 4. Osteolysis of thumb and amputation of distal phalanx of index finger.

No sensibility was clinically detectable and an elec­tromyogram revealed lower motor neuron disease. Spasticity in the hand and scoliosis were observed.

A transfer of the brachioradialis tendon to the flexor carpi radialis tendon was performed to help balance a wrist exten­sion habitus. Subsequently, at age 15 the distal phalanx of the index finger was amputated because of destruction after felon (Fig. 4).

Case 2. D. H., a white male infant, had no sucking re­sponse, was unable to nurse, and required spoon feeding dur­ing the neonatal period. At 8 months he fell against a hot stove, incurring a severe burn that did not seem to cause pain. Cuts healed very slowly. He developed ulcers over the knuck­les of both hands from crawling.

His pupils reacted to light and corneal reflexes were pres­ent but sluggish. Tendon reflexes were absent in all ex­tremities. Light touch and vibratory sense were present but there was no sensibility to pain or temperature. Scars were present over all four extremities. He had a markedly infected index finger wound.

No physiologic responses to pain were elicited, although he rubbed the area of injection of a sterile needle as though it itched. Audiometry revealed bilateral hearing losses. X-ray examinations revealed absorption of the terminal phalanx of the right index finger.

After conservative treatment proved ineffective, amputa­tion of the index finger through the middle phalanx was per­formed. He continued to have problems with recurrent paronychia and fingertip ulceration in other fingers.

Case 3. L. T., a white male infant 6 months old, began banging his head and chewing his lips and fingers until they

COllgellital illSellsiti\'ity (If' halld 865

Fig. 5. Case 3 shows deformities of forehead, nose, and lips from self-inflicted trauma. Sunken appearance of mouth is because of tooth extractions.

bled. Shortly thereafter, he began biting his tongue and toes (Fig. 5). Corneal ulcerations appeared at age 2 years. At age 5 years. he sustained a fracture of both bones of the right forearm that apparently caused no pain since it went un­noticed and resulted in nonunion of the ulna. Subsequent open reduction and internal fixation with a plate and screws resulted in union (Fig. 6).

Cranial nerve functions were intact. Sensibility to light touch, vibration, position, temperature, and two-point dis­crimination was normal. Pin prick was felt and he would withdraw in anticipation of painful stimuli and show no reac­tion once the stimulus was applied. Deep-tendon reflexes and motor examination results were normal. Histamine flare re­sponse was normal and skin biopsy showed normal nerve endings.

There were numerous scars over the upper extremities, with amputation of the right thumb at the metacarpophalan­geal joint. There were deformities of the fingers and nails and open infections were present. The small finger had partial amputation. There were burn scars over the ulnar border of the hand. The left hand revealed amputations at the distal interphalangeal joints of all fingers (Fig. 7).

Case 4. M. B. was 63 years old when she was seen be­cause her index and long finger were "in the way and con­stantly being damaged. " They had been anesthetic and larger than normal since birth. During the preceding decade she had

866 Gwathmey and House

Fig. 6. Case 3. Nonunion and resultant plating.

noticed steady, progressive loss of use of her upper ex­tremities.

Examination revealed macrodactyly of the index and long fingers. There was thenar atrophy and loss of opposition. Ulceration of both index finger tips was noted. Sensibility was absent in the index and long fingers. X-ray examination revealed marked bony enlargement and irregular exostoses.

She was found to have denervation potentials in muscles innervated by all motor nerves of the brachial plexus. Con­duction velocities were normal in ulnar nerves but were de­creased in median nerves.

Selective amputations were performed (Fig. 8). Digital nerves were noted to be markedly hypertrophied and no nerve endings were seen on histologic section.

Case 5. B. D., a l3-year-old white girl, used her right arm very poorly from birth and her general muscle tone was poor. She sustained a burn to her anterior thighs, apparently without pain. During teething, she chewed her right thumb, which resulted in progressive loss down to the base of the proximal phalanx. A chronic circumferential ulceration persisted at the base of the stump despite efforts to close it. Cranial nerve functions were normal. There was right thoracic scoliosis, mild weakness of the right shoulder girdle, but normal strength distally. There was bilateral quadriceps weakness.

There was absence of pain, touch, and temperature sen­sibility along the radial aspect of the right forearm, thumb, and index and long fingers (Fig. 9, A).

Electrical studies revealed normal nerve conduction veloc­ities and findings consistent with anterior horn cell pathology. Biopsy of the thumb revealed fibrosis of the digital nerve with nerve endings present.

The Journal of HAND SURGERY

A neurovascular island pedicle from the ulnar side of the ring finger was transferred to the thumb and subsequently provided 5 mm of two-point discrimination (Fig. 9, B).

Discussion and classification of syndromes

There are numerous case reports of individuals afflicted with defective sensibility that dates back to 1891, when Berkley described such a case. 1

In 1953, Feindel8 studied biopsy specimens of skin, fascia, periosteum, bone, and cartilage from the hip area of a patient with a presumed neuropathic joint thought to be secondary to congenital absence of pain sensibility. He found nerve endings normal in appear­ance and concluded that the lesion was of a more cen­tral location.

Baxter and Olszewski9 had the opportunity to study a patient whom they described as having "congenital universal insensitivity to pain." They could find no histologic abnormality of either the peripheral or the central nervous system. However, Haaxma et a1. 10 re­ported two siblings with all sensory modalities present who could not feel pain, which he related to a defect in calcium metabolism. Swanson et aLII found a patient who was one of two brothers, both with life-long in­sensitivity to pain. In addition, they had decreased temperature sensibility and did not sweat. After one of them had a febrile illness and died after a fever of 110°, Swanson et a1. studied the brain and made segmental sections of the entire spinal cord. They found the brain to be normal; however, small neurons in the dorsal root ganglia were absent. In the spinal cord, the dorsolateral fascicular tract was absent at each segment and the spinothalamic tract could not be identified. Similar cases of pain insensitivity and defective temperature regulation have been reported by Pinsky and Di­george12 and Vassella et alY

Patients with similar sensory characteristics have been identified and categorized into specific clinical syndromes by some authors in the past. Even so, abso­lute classification is difficult because of variants.

Congenital indifference to pain. This term is fre­quently used interchangeably with congenital insen­sitivity to pain or congenital absence of pain. Conse­quently, confusion exists in the literature in the classification of a particular patient. Indifference im­plies the ability to perceive the stimulus, which these patients have, but they do not seem to care whether it is noxious. Insensitivity would suggest an interruption in the sensory pathway. Patients in this category recog­nize the application of a stimulus that a normal person would recognize as pain, but they do not admit that it is

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Fig. 7. Case 3. Right hand shows amputation at various levels secondary to nail and finger biting.

unpleasant. All form of sensibility such as pin prick, light touch, temperature, two-point discrimination, and position and vibratory sensibility are present. Physiologic responses to pain , such as blood pressure elevation and increased pulse and respiratory rate, occur normally when the painful stimulus is applied. Reflexes are normal, as is the histamine flare reaction . Intelligence is in the normal range and no inheritance has been postulated.

Congenital sensory neuropathy. If the term insen­sitivity is to be used, it probably should be used with this entity. Here, an actual anatomic defect can be found : the absence of myelinated fibers or nerve end­ings.14 These individuals have no pathway for pain, touch, and temperature . Reflexes are absent and there are no physiologic responses. Sweating occurs. There seems to be no mode of inheritance . Mentality of the child is usually subnormal.

Congenital sensory neuropathy with anhidrosis. Though very closely related to congenital sensory neu­ropathy , recessive inheritance has been postulated 12 and mental accuity is defective . Also , sensibility to light touch is preserved . Pain is absent and temperature discrimination is markedly reduced or absent . These people are at risk of hyperthermic crisis, because in contradistinction to the other described entities, pa-

Fig. 8. Case 4 macrodactyly of index and long fingers, with ray resections on right hand and subtotal amputations of other involved fingers.

tients with this condition lack the ability to sweat. 15 Absence of Lissauer's and spinothalamic tracts has been observed ,16 but normal nerve endings and sweat glands are present in the skin.12

Hereditary sensory radicular neuropathy. Denny­Brown l

' reported a kinship of 36 people , 12 of whom had a progressive affliction appearing in late childhood

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Fig. 9. Case 5. A, Amputated thumb prior to reconstruction. B, Skin-neurovascular transfer to thumb. Note also the index fingertip deformity from previous felon.

that involved the lower extremities. It was usually heralded by shooting pains in the legs, trophic ulcers on the feet, and disappearance of reflexes. Total anesthesia was noted in some parts of the extremities, with varia­tions in other parts. Spread to the upper extremities was observed, with the hands being most severely involved. Vertigo and deafness were prominent features. Inher­itance was found to be dominant and intelligence nor­mal. Pathologically, there was primary degeneration of the dorsal root ganglia.

Familial dysautonomia (Riley-Day syndrome). 18. 19

This is a recessive disorder in which pain is not felt and temperature discrimination may be reduced. Sensibility to touch is preserved. Deep-tendon, corneal, and his­tamine flare reflexes are absent, as are physiologic re­sponses to pain. Sweating is present and may even be increased. Absence of fungiform papillae on the tongue and lack of overflow tears are helpful diagnostic signs. Emotional lability is prominent and the child may have subnormal intelligence.

Syringomyelia and syringobulbia. These and other space-occupying lesions in the cord, such as hemato­myeiia and neurofibromatosis, can produce sensory de­fects in which pain and temperature sensibility are lost. Reflexes are usually present, although they may be de­creased. Onset, although possible at birth, is usually later.

Acquired neuropathy. This includes lesions sec­ondary to infections such as Hansen's disease and syphilis or toxic agents that impair sensibility. Al­though not usually present at birth, these conditions must be considered, since proper treatment may halt progression or reverse the process.

Other conditions. Into this group fall the numerous variants of the above conditions, as well as other unre­lated entities. Lesch-Nyhan syndrome is a sex-linked disorder in which there is mental retardation, choreo­athetoid movements, and self-mutilation from sensory deprivation. In this syndrome, an enzyme defect leads to hyperuricemia. 20

There has been conflicting evidence2 1. 22 regarding the occurrence of pain indifference in patients with low-grade mental defects. Certain hysterical states will alter response to sensory input.

Macrodactyly in its true form is seen occasionally, with areas of hypesthesia over the involved digits. This is believed by some to be a manifestation of neu­rofibromatosis.2

:1

Conclusion

Congenital insensitivity commonly causes problems in the upper extremities that include fractures, in­fections, stiffness of the fingers, self-mutilation, and traumatic amputation. There are many variants of these

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congenital insensitivity syndromes, and only one of the five cases here reported can be satisfactorily cate­gorized.

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to pain. Ann Pediatr 18:314-20. 1971 2 . Khan SA. Peterkin GA : Congenital indifference to pain.

Trans St Johns Hosp Dermatol Soc 56: 122-30, 1970 3. Gwynn JL. Barnes GR Jr. Tucker AS , Johnson C: Con­

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4. Arbuse D1, Cantor MB, Barenberg PA: Congenital indif­ference to pain. 1 Pediatr 35: 221, 1949

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Lissauer's tract and small dorsal root axons in familial congenital, universal insensitivity to pain. Trans Am Neurol Assoc 88:99-103, 1963

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19. Riley CM. Moore RH: Familial dysautonomia differ­entiated from related disorders. Pediatrics 37:435-46, 1966

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22. Kirman BH, Bicknell 1: Congenital insensitivity to pain in an imbecile boy . Dev Med Child Neurol 10:57-63, 1968

23. Edgerton MT, Tuerk DB: Macrodactyly (digital gigan­tism): Its nature and treatment. In Littler JW, editor: Symposium on Reconstructive Hand Surgery, vol 9 . St. Louis, 1974, The CV Mosby Co