A Girl with No Pain: Congenital Insensitivity To Pain and Anhidrosis ( H SAN ) Type IV - A Case Report

Eregowda, Neena I; Yadav, Sneha; Poornima, P; Basavraj, Roopa Korishettar

doi:10.7860/jcdr/2016/16514.7317

Cited by 6 publications

(3 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Acro-osteolysis leading to amputation of digits is common in patients with congenital insensitivity to pain [ 19 , 40 , 44 , 45 , 49 , 50 , 51 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 , 86 , 87 , 88 , 89 , 90 , 91 ]. Acro-osteolysis has been reported to be associated with a number of genetic syndromes, including NOTCH2 -associated Hajdu-Cheney syndrome (MIM 600275), CTSK -associated Pycnodysostosis (MIM 601105), CTSC -associated Haim-Munk syndrome (MIM 245010), IFIH1 -associated Singleton–Merten syndrome 1 (MIM 182250), COL3A1 -associated Ehlers–Danlos syndrome, vascular type (MIM 130050), PDGFRB -associated premature aging syndrome, Penttinen type (MIM 601812), DST -associated hereditary sensory and autonomic neuropathy, type VI (HSAN6; MIM 614653) [ 92 ], and WNK1 -associated hereditary sensory and autonomic neuropathy, type II (MIM 201300) ( : 8 January 2024).…”

Section: Discussionmentioning

confidence: 99%

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain

Kantaputra,

Daroontum,

Kitiyamas

et al. 2024

IJMS

View full text Add to dashboard Cite

Congenital insensitivity to pain is a rare human condition in which affected individuals do not experience pain throughout their lives. This study aimed to identify the molecular etiology of congenital insensitivity to pain in two Thai patients. Clinical, radiographic, histopathologic, immunohistochemical, and molecular studies were performed. Patients were found to have congenital insensitivity to pain, self-mutilation, acro-osteolysis, cornea scars, reduced temperature sensation, tooth agenesis, root maldevelopment, and underdeveloped maxilla and mandible. The skin biopsies revealed fewer axons, decreased vimentin expression, and absent neurofilament expression, indicating lack of dermal nerves. Whole exome and Sanger sequencing identified a rare homozygous variant c.4039C>T; p.Arg1347Cys in the plakin domain of Plec, a cytolinker protein. This p.Arg1347Cys variant is in the spectrin repeat 9 region of the plakin domain, a region not previously found to harbor pathogenic missense variants in other plectinopathies. The substitution with a cysteine is expected to decrease the stability of the spectrin repeat 9 unit of the plakin domain. Whole mount in situ hybridization and an immunohistochemical study suggested that Plec is important for the development of maxilla and mandible, cornea, and distal phalanges. Additionally, the presence of dental anomalies in these patients further supports the potential involvement of Plec in tooth development. This is the first report showing the association between the Plec variant and congenital insensitivity to pain in humans.

show abstract

Section: Discussionmentioning

confidence: 99%

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain

Kantaputra,

Daroontum,

Kitiyamas

et al. 2024

IJMS

View full text Add to dashboard Cite

show abstract

“…Moreover, insensitivity to pain may lead to repeated trauma and excessive scratching of skin wounds, which can make patients susceptible to bacterial infections and even sepsis. CIPA patients also exhibit non-dermatologic symptoms such as self-mutilation, thermal injuries, joint dislocations and deformities, corneal ulcerations and aggressive behavior 13 .…”

Section: Discussionmentioning

confidence: 99%

A Case of Generalized Xerotic Eczema in a Patient with Congenital Insensitivity to Pain with Anhidrosis

Hong,

Yoon,

Lee

et al. 2023

Ann Dermatol

View full text Add to dashboard Cite

Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare disease characterized by insensitivity to pain, anhidrosis, and intellectual disability. CIPA is caused by a genetic mutation in the neurotrophic tyrosine receptor kinase 1 ( NTRK1 ) gene on chromosome 1. The anhidrosis leads to cutaneous changes such as skin dryness, lichenification, and impetiginization. Moreover, patients with CIPA may experience repeated trauma and recalcitrant eczema due to excessive scratching of wounds on their skin, because they do not feel any pain. Severe whole-body eczema in a patient with CIPA may be overlooked, leading these patients to be frequently diagnosed with atopic dermatitis and common eczema. Indeed, in patients with treatment-resistant or atypically distributed eczema and underlying anhidrosis, CIPA should be considered as a potential causative disease. Increased awareness of CIPA among dermatologists is necessary to ensure that patients receive an appropriate diagnosis. Herein, we report a rare case of generalized xerotic eczema in a patient with CIPA.

show abstract

“…But even here some balance is important. People clinically incapable of feeling pain are liable to injury, since pain serves an important evolutionary function as a warning signal to avoid noxious stimuli and protect damaged tissue (Eregowda et al, 2016). Relatedly, a person continually stimulated by pleasure may lack motive force to address bodily needs; for instance, food intake is regulated by unpleasant hunger sensations (Führer et al, 2008).…”

Section: Affective Balance and Harmonymentioning

confidence: 99%

Life balance and harmony

Lomas¹

2021

Intnl. J. Wellbeing

View full text Add to dashboard Cite

The relevance of balance and harmony to wellbeing has been under-appreciated in psychology. Even though these concepts have received considerable attention across different contexts (e.g., work-life balance), this literature is fragmented and scattered. There have been few attempts to bring these disparate threads together, or to centre these concepts as foundational and important across all aspects of human functioning. This paper remedies this lacuna by offering a narrative review of these diverse works. Relevant literature is organised into four emergent categories: affect, cognition, behaviour, and self-other relations. Throughout these, balance and harmony can be appreciated as not merely relevant to wellbeing, but arguably a defining principle, a 'golden thread' running through its myriad dimensions (though this thread is itself multifaceted, comprising a cluster of interlinked concepts). Based on this analysis, an overarching definition of wellbeing is offered: the dynamic attainment of optimal balance and harmony in any -and ideally all -aspects of life. This paper provides a foundation and stimulus for further work on these important topics.

show abstract

A Girl with No Pain: Congenital Insensitivity To Pain and Anhidrosis ( H SAN ) Type IV - A Case Report

Cited by 6 publications

References 5 publications

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain

Homozygosity for a Rare Plec Variant Suggests a Contributory Role in Congenital Insensitivity to Pain

A Case of Generalized Xerotic Eczema in a Patient with Congenital Insensitivity to Pain with Anhidrosis

Life balance and harmony

Contact Info

Product

Resources

About