|Year : 2012 | Volume
| Issue : 1 | Page : 48-50
Follicular atrophoderma in a 6-year-old male child with type-2 pachyonychia congenita
Ramesh Kumar, Saurabh Agrawal, Amrinder J Kanwar
Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
|Date of Web Publication||23-Oct-2012|
Amrinder J Kanwar
Department of Dermatology, Venereology, and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh- 160 012
Source of Support: None, Conflict of Interest: None
A 6-year-old male child presented with progressive hypertrophy and discoloration of all 20 nails. Further evaluation revealed milia in bilateral concha and face, which were present since infancy. Other findings included atrophoderma over bilateral sides of lateral canthi of eyes and absent lower central incisors. Past medical and family history had remarkable findings such as natal teeth and similar nail changes in his elder sister. Similar nail changes, milia and focal plantar keratoderma were present in his father and elder sister. The patient's clinical presentation and history were compatible with pachyonychia congenita subtype 2.
Keywords: Atrophoderma, plantar keratoderma, pachyonychia congenital
|How to cite this article:|
Kumar R, Agrawal S, Kanwar AJ. Follicular atrophoderma in a 6-year-old male child with type-2 pachyonychia congenita. Indian J Paediatr Dermatol 2012;13:48-50
|How to cite this URL:|
Kumar R, Agrawal S, Kanwar AJ. Follicular atrophoderma in a 6-year-old male child with type-2 pachyonychia congenita. Indian J Paediatr Dermatol [serial online] 2012 [cited 2022 Jan 16];13:48-50. Available from: https://www.ijpd.in/text.asp?2012/13/1/48/102816
| Introduction|| |
Pachyonychia congenita (PC) is a group of rare genodermatosis first described by Muller in 1904 and Wilson in 1905. Jadassohn and Lewandowsky described the same condition in two siblings in 1906.  It is characterized by a triad: hypertrophic nail dystrophy and discoloration, focal palmoplantar keratoderma and thick white areas of oral mucosa (leukokeratosis).  It can be classified into PC-1 (Jadassohn-Lewandowsky type), caused by mutation in the K6a/ K16 genes, and PC-2 (Jackson-Lowler type), caused by mutation in the K6b/ K17 genes. Other rarer variants are PC-3 (Schafer-Brunauer type) and PC-4.  Although it is an autosomal-dominant genodermatosis, autosomal-recessive forms as well as phenotypic variations have been described.  Atrophoderma is characterized by depressed, atrophic and hyperpigmented patches. Follicular atrophoderma presents as a dimple-like depression at the follicular orifices. It appears to be due to a variety of genetic defects, including Bazex syndrome and Conradi-Hunermann-Happple syndrome. It may be present since birth or in early childhood.  To the best of our knowledge, the association of follicular atrophoderma and pachyonychia congenital has not been reported.
| Case Report|| |
A 6-year-old male child was brought by his parents with complaints of discoloration and dystrophy of nails and multiple, small, white lesions over the face and both ears since birth. The nails were normal at birth, and nail thickening started at the age of around 1 year to involve almost all 20 nails by the age of 2.5 years. His parents noticed multiple pitted scars at the side of the eyes at the age of 7-8 months, which progressively increased in number. There was no history of any preceding lesions prior to the onset of pitted scars. On examination, yellowish-brown dystrophic nails with subungual hyperkeratosis were noted [Figure 1]a and b. Other signs included atrophoderma and milia over the face [Figure 1]c & d and [Figure 2]. Lower central incisors were absent. No oral leukokeratosis and hoarseness of voice was present. He was a healthy child with normal physical and mental growth. The patient's birth history by parents revealed natal teeth, which was also present in his 4-year-old sister [Figure 3]. His father had more severe nail changes, milia and steatocystoma-like lesions over the neck and axilla and epidermoid cyst over the scrotum. A skin biopsy was not agreed upon by the parents. A clinical diagnosis of follicular atrophoderma with type 2 PC was made.
|Figures 1: (a and b) Thickened nails and (c and d) milia and atrophoderma|
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|Figure 3: Pedigree showing affected family members (darkened circles and squares)|
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| Discussion|| |
PC is a rare hereditary disorder characterized mainly by nail hypertrophy and dyskeratoses of the skin and mucous membranes. There is no predilection for any sex or ethnic group.
PC-1 ( Jadassohn-Lewandowsky syndrome More Details) consists of focal palmoplantar keratoderma, oral mucosal leukokeratosis and follicular hyperkeratosis. In few cases, bullous lesions over the soles, hyperkeratotic lesions over the extensors and hoarseness of voice due to laryngeal involvement have also been reported.  In PC-2 (Jackson-Lawler type), palmoplantar keratoderma and leukokeratosis are very uncommon or absent. However, natal teeth and steatocystomas with or without vellus hair cysts are the specific clinical features seen in PC-2.  PC-3 (Schafer-Brunauer type) is characterized by clinical features of both PC-1 and PC-2 along with angular cheilosis, corneal dyskeratosis and cataract.  In PC-4, mental retardation, alopecia and other hair abnormalities are present in addition to clinical features of PC-1 to PC-3.  Other variants such as PC with onset of the clinical features later in life are referred to as pachyonychia congenita tarda. Rarely, PC with only nail changes without other manifestations has been described. ,
Atrophoderma vermiculatum is the term used for the lesions that mostly present over the cheeks. It can occur sporadically or can be transmitted as an autosomal-dominant pattern. It can be associated with many syndromes, including keratosis pilaris atrophicans, Rombo syndrome, Braun-Falco syndrome and Nicolau-Balus syndrome. 
This is the first case of PC to be reported with atrophoderma. Follicular atrophoderma could be an isolated defect in this patient.
| References|| |
|1.||Jadassohn J, Lewandowsky F. Pachyonychia congenital: Iknografia Dermatological. Berlin: Urban and Schwarzenberg; 1906. p. 29-31. |
|2.||Dahl PR, Daoud MS, Su WP. Jadassohn- Lewandowski syndrome (pachyonychia congenita). Semin Dermatol 1995;14:129-34. |
|3.||Leachman SA, Kaspar RL, Fleckman P, Florell SR, Smith FJ, McLean WH, et al. Clinical and pathological features of pachyonychia congenita. J Invest Dermatol Symp Proc 2005;10:3-17. |
|4.||Viksnins P, Berlin A. Follicular atrophoderma and basal cell carcinoma: The Bazex syndrome. Arch Dermatol 1977;113:948-51. |
|5.||Haber RM, Drummond D. Pachyonychia congenita with laryngeal obstruction. Pediat Dermatol 2011;28: 429-32. |
|6.||Ehsani A, Moeineddin F, Rajaee A Pachyonychia congenita with woolly hair in a ten month old infant. Indian J Dermatol Venerol Leprol 2008;74:485-6. |
|7.||Feinstein A, Friedman J, Schewach-Millet M. Pachyonychia congenita. J Am Acad Dermatol 1988;19:705-11. |
|8.||Paller AS, Moore JA, Scher R. Pachyonychia congenital tarda: A late onset form of pachyonychia congenita. Arch Dermatol 1991;127:701-3. |
|9.||Chang A, Lucker GP, Van de Kerkhof PC, Steijlen PM. Pachyonychia congenita in the absence of other syndrome abnormalities. J Am Acad Dermatol 1994;30:1017-8. |
|10.||Frosch PJ, Brumage MR, Schuster-Pavlovic C, Bersch A. Atrophoderma vermiculatum: Case reports and review. J Am Acad Dermatol 1988;18:538-42. |
[Figure 1], [Figure 2], [Figure 3]