|Year : 2017 | Volume
| Issue : 2 | Page : 119-121
Despite the hair failing, nails thrive…
Samipa Samir Mukherjee, BS Chandrashekar
Department of Dermatology, Cutis Academy of Cutaneous Sciences, Bengaluru, Karnataka, India
|Date of Web Publication||27-Mar-2017|
Samipa Samir Mukherjee
Department of Dermatology, Cutis Academy of Cutaneous Sciences, Bengaluru, Karnataka
Source of Support: None, Conflict of Interest: None
Ectodermal dysplasias are defined as a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures namely eccrine glands, hair, nail and teeth. Pure hair and nail affecting ectodemal dysplasias are exceedingly rare in occurance and have been known to be associated with multiple abnormalities, such as keratoderma or ichthyosis, skeletal and hematological abnormalities, cardiac irregularities, mental or psychomotor retardation and cataracts. We herein report a case of hypotrichosis with trichorrhexis nodosa and twenty nail dystrophy- a hypohidrotic ectodermal dysplasia variant.
Keywords: Ectodermal dysplasia, hypotrichosis, moniliform hair, trichorrhexis nodosa, twenty nail dystrophy
|How to cite this article:|
Mukherjee SS, Chandrashekar B S. Despite the hair failing, nails thrive…. Indian J Paediatr Dermatol 2017;18:119-21
| Introduction|| |
Ectodermal dysplasias were first described by Thurnam in 1848. These disorders define a group of congenital, nonprogressive, developmental syndromes with primary disorders in at least two ectoderm-derived structures, namely, eccrine glands, hair, nail, and teeth. The most commonly used classification, by Freire-Maia, assigned a number to each ectodermal tissue: Hair is 1, disorders of dentition are 2, nail dystrophy is 3, abnormal sweat gland function is 4, and a defect involving another ectodermal structure is 5. The defects in ectodermal dysplasias can be noted as early as 3 weeks of gestation, and it may present as a pure pattern or a syndromic pattern with the involvement of other systems. Pure hair and nail affecting ectodermal dysplasias are exceedingly rare in occurrence and have been known to be associated with multiple abnormalities such as keratoderma or ichthyosis, skeletal and hematological abnormalities, cardiac irregularities, mental or psychomotor retardation, and cataracts. We herein report a case of a 9-year-old girl having hypotrichosis with trichorrhexis nodosa and twenty nail dystrophy - a hypohidrotic ectodermal dysplasia variant.
| Case Report|| |
A 9-year-old girl, the first child of the second degree consanguineous marriage, presented with sparse and light-colored hair on the scalp since birth with loss of eyebrows [Figure 1]. Similar features were noted in the father although the sparseness of hair was not striking. Based on history, the sibling also had similar features although he was not available for evaluation. Her growth and developmental history were normal with no history suggestive of neural, aural, ocular deficits, and abnormality in sweating pattern or recurrent episodes of fever.
|Figure 1: Light colored, short, dry, lustreless hair with loss of eyebrows|
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Examination revealed sparse, light-colored, wiry, short, and dry hair over the entire scalp with accentuated sparseness over the temporal and occipital areas [Figure 2]. Sparse fine vellus hair was noted over the eyebrow with generalized hypotrichosis. Short and sparse eyelashes were also noted. Axillary and pubic hair was not developed. Hair pull test was negative with no evidence of papular eruptions on the scalp or body. Sweating was not formally tested.
Nail changes in all twenty nails included shortened, nail plate with distal onycholysis and loss of the cuticle [Figure 3]. Mucosae and teeth were normal. Cutaneous examination did not show evidence of any lesions. Palms and soles were normal. Dermoscopic evaluation of the hair did not reveal any changes; however, nails showed a longitudinal ridging pattern. Light microscopic examination of the hair showed pigment dilution in few hair shafts, moniliform beading, and trichorrhexis nodosa was noted [Figure 4]. There was no evidence of ichthyosis, facial dysmorphism, palmoplantar keratoderma, ocular, dental, and skeletal defects. Routine blood investigations and blood biochemistry were within normal limits.
|Figure 4: Hair microscopy showing trichorrhexis nodosa and moniliform beading|
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Based on the history, clinical features, and light microscopic evaluation findings, the case was diagnosed as hypotrichosis with trichorrhexis nodosa, moniliform beading, and twenty nail dysplasia - A hypohidrotic ectodermal dysplasia variant.
The child was managed with topical 2% minoxidil solution 1 ml twice daily application onto the scalp with partial improvement at the end of 3 months. She was also given a neutral pH daily wash shampoo along with hair nutrition diet. Although initial response was noted at the end of 3 months sustained growth of hair was not observed in our case.
| Discussion|| |
Ectodermal dysplasias have been described over a century and a half ago and newer subtypes continue to increase. Currently, about 170 different types of ectodermal dysplasias have been described. The types and subgroups have been described based on the constellation of involvement of ectodermal structures. Based on the classification by Freire-Maia, our patient would be considered to have an isolated 1 and 3 ectodermal dysplasia. As the father and sibling also had the similar defect of the hair and nail, an autosomal dominant inheritance pattern could be interpreted in our patient.
A review of the literature in 1994 revealed a total of 19 ectodermal dysplasias in subgroup 1–3. In 2004, Harrison and Sinclair reported a case with hypotrichosis and nail dysplasia in a 3-year-old girl, as a form of novel hidrotic ectodermal dysplasia which had multiple similarities with another case reported in an adult by Kharkar et al. in 2011., In addition to the trichorrhexis nodosa mentioned in the above cases, our case also demonstrated evidence of moniliform beading on the hair shaft which was similar to the findings in the report on a Brazilian family. Earlier-mentioned reports have also shown the evidence of generalized hypotrichosis, pili torti-like hair shaft abnormalities, and unusual pattern of hair distribution on scalp with hypotrichosis being limited to the bilateral frontotemporal areas of the scalp.
Light microscopy helped in detecting the hair shaft defects in our patient as opposed to the case by Kharkar et al. where trichoscopy was sufficient to diagnose trichorrhexis nodosa. Differential diagnosis that can be considered includes atrichia with papular eruptions, congenital hypotrichosis, naxos disease, and variants of palmoplantar keratoderma syndromes. The presence of nail abnormalities with hypotrichosis also separates our case from various forms of atrichia congenita or congenital hypotrichosis.
An analysis of the differential diagnoses classifies our case as a pure hair–nail ectodermal dysplasia with hypotrichosis demonstrating trichorrhexis nodosa and moniliform beading. In addition, our case seems to be autosomal dominantly inherited due to similar features being present in the father and sibling. The autosomal dominant nature of inheritance, the presence of multiple hair shaft defects along with just hair and nail abnormalities make the case unique due to rarity of all the features being present in a single case. We also suggest that this phenotypic expression may be a milder manifestation of a well-established entity earlier, but further studies are needed to confer a separate position as a distinguished entity in the plethora of ectodermal dysplasias.
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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Conflicts of Interest
There are no conflicts of interest.
| References|| |
Thurnam J. Two cases in which the skin, hair and teeth were very imperfectly developed. Proc RM Chir Soc 1848;31:71-82.
Freire-Maia N. Ectodermal dysplasias. Hum Hered 1971;21:309-12.
Freire-Maia N. Ectodermal dysplasias revisited. Acta Genet Med Gemellol (Roma) 1977;26:121-31.
Freire-Maia N, Lisboa-Costa T, Pagnan NA. Ectodermal dysplasias: How many? Am J Med Genet 2001;104:84.
Pinheiro M, Freire-Maia N. Ectodermal dysplasias: A clinical classification and a causal review. Am J Med Genet 1994;53:153-62.
Harrison S, Sinclair R. Hypotrichosis and nail dysplasia: A novel hidrotic ectodermal dysplasia. Australas J Dermatol 2004;45:103-5.
Kharkar V, Gutte R, Thakkar V, Khopkar U. Trichorrhexis nodosa with nail dystrophy: Diagnosis by dermoscopy. Int J Trichology 2011;3:105-6.
Pinheiro M, Freire-Maia N. Hair-nail dysplasia – A new pure autosomal dominant ectodermal dysplasia. Clin Genet 1992;41:296-8.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]