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Year : 2022  |  Volume : 23  |  Issue : 1  |  Page : 67-70

Painless self-mutilation − A case of hereditary sensory autonomic neuropathy type 4

Department of Dermatology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India

Date of Submission08-Dec-2020
Date of Acceptance21-Oct-2021
Date of Web Publication31-Dec-2021

Correspondence Address:
Mohammad Adil
Department of Dermatology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijpd.ijpd_176_20

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Children with hereditary sensory and autonomic neuropathy (HSAN) Type IV present with loss of pain and temperature sensation and anhidrosis. They may sometimes exhibit aggressive and self-mutilating behavior. We present here the case of a 5-year-old male child who presented with a history of self-mutilating behavior leading to ulcers over knees, elbows, toes and occiput, and amputation of index fingers of both hands. The patient had loss of temperature and pain sensation, but touch was normal. There was anhidrosis. Serum uric acid levels were normal. Histamine test was absent, and nerve studies showed decreased conduction velocity. A diagnosis of HSAN Type IV was made. This case is being presented as self-mutilation was the prominent complaint of the parents of the child. We also discuss the differences between HSAN Type IV and Lesch−Nyhan syndrome.

Keywords: Congenital insensitivity to pain, hereditary sensory and autonomic neuropathy, self-mutilation

How to cite this article:
Pathak P, Adil M, Amin SS, Zahra FT. Painless self-mutilation − A case of hereditary sensory autonomic neuropathy type 4. Indian J Paediatr Dermatol 2022;23:67-70

How to cite this URL:
Pathak P, Adil M, Amin SS, Zahra FT. Painless self-mutilation − A case of hereditary sensory autonomic neuropathy type 4. Indian J Paediatr Dermatol [serial online] 2022 [cited 2022 Jan 20];23:67-70. Available from: https://www.ijpd.in/text.asp?2022/23/1/67/334673

  Introduction Top

Hereditary sensory and autonomic neuropathy (HSAN) Type IV, also called congenital insensitivity to pain with anhidrosis (CIPA), is an extremely rare autosomal recessive disorder with the characteristic features of congenital absence of pain sensation and loss of sweating leading to repeated injuries and hyperpyrexia.[1] Children may sometimes exhibit self-mutilation on account of the absence of pain. Herein, we present a classic case of CIPA in a child with self-mutilating behavior.

  Case Report Top

A 5-year-old boy born of consanguineous marriage through full-term normal vaginal delivery was brought to us with complaints of wounds over knees, toes, fingers, and tongue for the age of 1.5 years which the parents complained were inflicted by the child himself. There was a history of amputation of right great toe secondary to trauma incurred at the age of 4 years. The child was insensitive to pain sensation since birth which was first appreciated by the parents at the age of 5 months when he did not cry after suffering trauma over forehead and used to smile after banging his head. There was a history of absence of sweating. The child was born at term through normal vaginal delivery. The antenatal history was uneventful. There was no family history of similar complaints; he did not have any siblings. On inquiry, the child was found to have delayed developmental milestones including gross and fine motor skills and verbalization. There was no history of staining of diapers, hematuria, pain in the abdomen, pain and swelling over joints, seizures, abnormal movements, and loss of consciousness.

The examination of the child revealed decreased weight for age and decreased height for age suggesting malnourishment and stunted growth. The blood pressure of the child was normal with respect to age with no postural relation. Gross and fine movements were delayed for his age, tone was normal, with no motor involvement and no response to pain sensation and temperature. The deep-tendon reflexes were present. Furthermore, multiple well-defined erythematous ulcers of size ranging from 1 cm × 1 cm to 2 cm × 1.5 cm were present over bilateral knees, occipital area, and the right great toe [Figure 1] and [Figure 2]. Amputated right and left index finger and healed scars over the dorsum of bilateral hands were seen [Figure 3].
Figure 1: Deep punched out ulcers over the knees and toes

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Figure 2: Ulcer over the occiput

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Figure 3: Amputated index fingers of both hands and healed scars over the dorsum of hands

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X-ray of the wrist and hand revealed delayed bone age and nonvisualization of phalanges in the index finger of the right and left hand [Figure 4]. The routine investigations of patient complete blood count, liver function tests, renal function tests, thyroid profile, Chest X-ray, X-ray of spine, ultrasonography abdomen and kidney, ureter, and bladder revealed no abnormality. The serum uric acid levels were within the normal limits. The histamine axon flare test was absent and the nerve conduction study demonstrated decreased nerve conduction velocity in the right and left median and right and left common peroneal nerve. Skin biopsy was normal. A nerve biopsy was not performed as the parents refused for consent. The genetic analysis could not be done because of financial constraints. Based on history, examination, and investigations, the diagnosis of HSAN Type IV was made.
Figure 4: Radiograph of the left hand showing nonvisualization of phalanx of the index finger

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  Discussion Top

Hereditary sensory and autonomic neuropathies (HSAN) comprise of a number of inherited disorders that characteristically show sensory dysfunctions such as depressed reflexes, altered pain and temperature sensation, and varying degrees of autonomic dysfunction such as gastroesophageal reflux, postural hypotension, and excessive sweating. Initially, Dyck and Ohta classified it into four types.[2] The classical four types described by Dyck and Ohta are HSAN I called as hereditary sensory radicular neuropathy, HSAN II called as congenital sensory neuropathy, HSAN III called as familial dysautonomia (FD) or Riley-Day syndrome, HSAN IV called as CIPA. Later, few more entities were added: Congenital insensitivity to pain with partial anhidrosis (Type V), congenital autonomic dysfunction with universal pain loss, and progressive pan-neuropathy.

HSAN Type IV (HSAN IV) is caused by mutations in the NTRK1 Tropomyosin receptor kinase A (TRKA) gene present on chromosome 1q21-q22.[3] As a result of loss-of-function mutations, signal transduction at the NGF receptor is impeded, and NGF-dependent neurons, i.e., the small sensory and sympathetic neurons fail to survive. More than 37 different mutations in the neurotropic tyrosine kinase receptor (NTRKA) gene have been described,[4] and so commercial molecular genetic diagnostic testing is not feasible.

It is characterized by the involvement of the skin, bone, and nervous system. The common clinical features are anhidrosis, profound sensory insensitivity leading to self-mutilation, auto-amputation, and corneal scarring.[5] Fractures are slow to heal and develop complications such as Charcot joint and osteomyelitis. Hypotonia and delayed developmental milestones are frequent in the early years but strength and tone normalize with age. Severe learning problems, hyperactivity, and emotional lability are common. Blood pressure changes are secondary to disuse atrophy rather than autonomic dysfunction. They usually lack the features of gastrointestinal dysmotility and acrocyanosis. Insensitivity to hypoxia and hypercapnia has not been seen in these patients.[6] Nerve biopsy characteristically shows the presence of myelinated nerve fibers and absent unmyelinated fibers[7] and skin biopsy reveals deficient C and Aδ fibers in the epidermis and absent or hypoplastic dermal sweat glands without innervation.[8]

The most important diagnosis to consider in a child with self-mutilation is Lesch−Nyhan syndrome.[9] The salient differences between Lesch−Nyhan and CIPA are summarized in [Table 1]. Other differentials of CIPA include FD, Cornelia de Lange syndrome, anhidrotic ectodermal dysplasia, etc., The management of CIPA is usually supportive and involves the prevention of hyperthermia and self-mutilation, management of traumatic wounds, careful daily examination of trauma prone sites, prevention of injury by providing safe interior, and external environment.
Table 1: Differences between congenital insensitivity to pain with anhidrosis and Lesch-Nyhan syndrome

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The presenting complaint of our patient was self-mutilating behavior. The presence of anhidrosis and normal uric acid levels in blood-differentiated CIPA from Lesch−Nyhan syndrome.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Rajbansh P, Yadav M, Kumar P, Das A. Congenital insensitivity to pain with anhidrosis: A rare entity. Indian Dermatol Online J 2020;11:274-7.  Back to cited text no. 1
  [Full text]  
Agrawal SN, Deshmukh YR, Deshmukh MN. She feels no pain: A child with congenital insensitivity to pain and anhidrosis. Indian J Paediatr Dermatol 2015;16:146-8.  Back to cited text no. 2
Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, et al. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet 1996;13:485-8.  Back to cited text no. 3
Schwarzkopf R, Pinsk V, Weisel Y, Atar D, Gorzak Y. Clinical and genetic aspects of congenital insensitivity to pain with anhidrosis. Harefuah 2005;144:433-7, 453, 452.  Back to cited text no. 4
Rosemberg S, Marie SK, Kliemann S. Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV). Pediatr Neurol 1994;11:50-6.  Back to cited text no. 5
Axelrod FB, Gold-von Simson G. Hereditary sensory and autonomic neuropathies: Types II, III, and IV. Orphanet J Rare Dis 2007;2:39.  Back to cited text no. 6
Ismail EA, Al-Shammari N, Anim JT, Moosa A. Congenital insensitivity to pain with anhidrosis: Lack of eccrine sweat gland innervation confirmed. J Child Neurol 1998;13:243-6.  Back to cited text no. 7
Hilz MJ, Stemper B, Axelrod FB. Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV. Neurology 1999;52:1652-7.  Back to cited text no. 8
Jathar P, Panse AM, Jathar M, Gawali PN. Lesch-Nyhan syndrome: Disorder of self-mutilating behavior. Int J Clin Pediatr Dent 2016;9:139-42.  Back to cited text no. 9


  [Figure 1], [Figure 2], [Figure 3], [Figure 4]

  [Table 1]


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