Indian Journal of Dermatology
: 2019  |  Volume : 64  |  Issue : 6  |  Page : 504--505

Total anonychia, spastic diplegia, and mental retardation in an Indian boy: A novel syndrome?

Vibhu Mendiratta, Anuja Yadav 
 Department of Dermatology and STD, Lady Hardinge Medical College and Associated Hospital, New Delhi, India

Correspondence Address:
Anuja Yadav
Department of Dermatology and STD, Lady Hardinge Medical College and Associated Hospital, New Delhi

How to cite this article:
Mendiratta V, Yadav A. Total anonychia, spastic diplegia, and mental retardation in an Indian boy: A novel syndrome?.Indian J Dermatol 2019;64:504-505

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Mendiratta V, Yadav A. Total anonychia, spastic diplegia, and mental retardation in an Indian boy: A novel syndrome?. Indian J Dermatol [serial online] 2019 [cited 2022 Jan 29 ];64:504-505
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Anonychia (absence of nails) is a very rare congenital or acquired anomaly. Sometimes it may occur as a single feature or as a part of a syndrome. Nonsyndromic anonychia has been reported in either partial (anonychia in few digits) or total form (anonychia involving all 20 digits). Simple anonychia means congenital absence of nails without any other coexisting major congenital anomaly and is extremely rare.[1] Syndromic anonychia has been described in association with various other abnormalities.[2] We report association of total anonychia in a 4 year old Indian boy with spastic diplegia, white matter paucity, and developmental delay encompassing a novel syndrome, hitherto undescribed in the literature. Our patient was the first born of a nonconsanguineous marriage who presented with the chief complaint of absence of all fingernails and toe nails since birth. Patient was born by normal vaginal delivery at hospital and cried immediately after birth. After 5 days of birth, the patient suddenly went into a shock, and was diagnosed as neonatal sepsis and discharged after having recovered fully without any sequelae. There was no history of seizure. There was no similar complaint in the family. Till 1 year of age patient was apparently well when parents noticed the boy had difficulty in sitting, standing, and walking. The patient could not speak. General physical examination was normal. Nails examinations showed absence of nails in all the fingers and toes [Figure 1]. Hair, mucosae and teeth were normal. Systemic examination was normal. Examination of the motor system showed increased tone in both upper and lower limbs, with a power of 3/5, and presence of bilateral ankle clonus. The child was anemic (hemoglobin: 9.9 g/dl). Biochemical tests were normal. Skeletal survey showed hypoplasia of distal phalanges, with a dense band at metaphysis. BERA and Fundus examination were normal. Urinary gas chromatography mass spectrometry (GCMS) levels were normal and no inborn error of metabolism was documented. Karyotyping was also normal. Magnetic resonance imaging of the brain revealed white matter paucity with prominent bilateral lateral ventricles and thinning of corpus callosum. Simple anonychia, meaning congenital absence of the nails without any other coexisting major congenital anomaly, is extremely rare.[1] Usually it is an isolated finding or can be a part of other developmental defects of digits or other structures.[3],[4] Sometimes anonychia occurs sporadically and may have dominant or recessive inheritance pattern.[5] Congenital anonychia has been described in association with a wide variety of other congenital anomalies such as nail patella syndrome, DOOR syndrome (deafness, onychodystrophy, osteodystrophy, and mental retardation), AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate), EEC syndrome (ectodactyly, ectodermal dysplasia, cleft lip/palate), TOOD syndrome (tricho-odonto-onycho-dermal), hypohidrotic ectodermal dysplasia with multiple anomalies, and various craniofacial malformation syndromes.[2] Some of the common causes for acquired anomaly are ichthyosis, severe infection, severe allergic contact dermatitis, self-inflicted trauma, Raynaud's phenomena, lichen planus, epidermolysis bullosa, or severe exfoliative diseases.[6] Absence of nails probably represents a mesenchymal dysplasia occurring during the morphogenesis of the digits. The gene RSPO4 has been identified to be responsible for anonychia, which is a member of R-spondin family of secreted proteins. R-spondin gene on chromosome 20p13 helps in activation of Wnt-beta catenin signaling pathway which regulates nail morphogenesis. A frameshift and nonconservative missense mutation in the exon 2 of R-spondin 4 gene alters nail morphogenesis, resulting in absence of nails.[7] DOOR syndrome comprises deafness, onychodystrophy, osteodystrophy, and mental retardation. Our patient showed anonychia, hypoplasia of distal phalanges with mental retardation; however, deafness was absent. In addition, spastic diplegia, paucity of white matter, and thinning of corpus callosum were unique features in our case. Few cases of total anonychia has been reported earlier but congenital anonychia with spastic diplegia, white matter paucity, and developmental delay encompassing a novel syndrome, hitherto undescribed in the literature. A multidisciplinary approach should be adopted in total anonychia. Moreover, all the causes of anonychia including congenital and acquired must be ruled out. Skeletal survey, ophthamalogical, dental examinations, BERA, urinary GCMS, and karyotyping should be done. Total anonychia can also be a marker of several structural defects and neurological deficits, which must be investigated in these patients. We could not carry out mutational analysis for RSPO4 gene due to financial constraints. Main stay for treating congenital anonychia is artificial nails. Our patient had congenital anonychia as an asymptomatic condition which did not affect his daily activities or cause any inconvenience. Parents were reassured and prosthetic acrylic nails were provided for cosmesis.{Figure 1}

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand 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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