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Year : 2019 | Volume : 7 | Issue : 1 | Page : 27 - 29  


Case Reports
Rare association of Pachyonychia Congenita Type 1 and vitiligo: a case report

Sandeep Kodali1*, Sai Kranthi Kumar Nadimpalli2

Mythri Dermatology Experts, 49b, Sai Raj Building, 1st Floor, Kavuri Hills, Madhapur,  Hyderabad, Telangana, India

*Corresponding Author:

Email: sandeep_kodali@yahoo.com                                                                                                            

Summary: 

Pachyonychia congenita, a rare group of genodermatoses, is a disorder of keratinization, characterized mainly bynail hypertrophy and dyskeratoses of skin and mucous membranes. Four types have been described depending upon the genes involved and the presenting features. Various other features have been described in association with pachyonychia congenita. We hereby present a rare association of pachyonychia congenita with vitiligo, wherein only one such case has been recorded till date.

Key words: Pachyonycia, type, features

Introduction: 

Pachyonychia congenita (PC), a group of rare genodermatoses, is a disorder of keratinization. One of the first to observe and document PC was Muller 1n 1904, followed by Wilson in 1905 and Jadassohn and Lewandowsky in 1906. Only about 450 cases have been documented so far.1It is classified into 4 types, of which two important ones include type–1 (Jadassohn–Lewandowsky syndrome) and type–2 (Jackson–Lawler syndrome), type–1 being more common than type–2.2Autosomal dominant transmission with incomplete penetrance is the rule, there are cases with autosomal recessive inheritance as well. 3We report a rare case of association of not very common pachyonychia congenita with vitiligo, only one such association has been reported till now, 4to the best of our knowledge.

CASE REPORT: 

A 35-year-old female patient, born out of a non – consanguineous marriage, came with complaints of thickened nails involving all the hands and feet since childhood. Change in colour of the nails was the initial feature noticed few weeks after birth which gradually became thickened and curved. No history of trauma, pain or discharge was given. No associated blisters at frictional sites. There was a history of similar disorder in the patients paternal grandfather, father, one brother and sister. Patients children and her brothers children were also affected similarly. Patient also complained of asymptomatic, white patches over the lips, palms and soles for 10 years. On examination, dystrophic changes were present in all the 20 nails of the hands and feet, the severity being more on the hands. All nails were discoloured, thickened from base to tip and wedge shaped, with subungual hyperkeratosis. Symmetrical, but focal type of palmoplantar keratoderma (PPKD) – thick plaques with fissuring was observed. Hyperkeratotic, follicular papules were seen over the elbows, front of the knees and legs. Multiple,well circumscribed, depigmented macules were observed over the lips, palms and the soles, which are showing tendency to extend on to the dorsum of the hands and feet. Tongue was bald and pale, leukokeratosis was not seen. Bilateral angular stomatitis was seen. Hair and other mucosal areas were normal. Nail clippings were taken, and potassium hydroxide microscopy and culture were done, which ruled out fungal involvement. Haematological investigations including liver and renal function tests were normal. Skin biopsy and histopathological examination revealed hyperkeratosis, parakeratosis, acanthosis, thickened and clumped intermediate filaments and enlarged keratohyaline granules.

DISCUSSION: 

PC, a rare type of PPKD, which is classified into 4 types, PC – 1 to 4,has common clinical findings of painful to debilitating PPKD, nail dystrophy and hypertrophy, oral leukokeratosis, palmoplantar hyperhidrosis, and variable cysts.Most common mode of inheritance as an autosomal dominant trait with incomplete penetrance, but cases with autosomal recessive inheritance has also been reported. 1, 2, 3

PC Type 1 (Jadahsson – Levandowsky syndrome) occurs due to the mutation in gene encoding keratin 6a and 16. 2 These patients are characterized by the presence of nail dystrophy since birth. This may be accompanied by painful paronychia, hyperkeratosis of the palms and soles over the pressure sites, oral leukokeratosis, palmoplantar hyperhidrosis, and follicular keratotic papules distributed throughout the body. Painful blisters may also develop over the palms and soles. Hoarseness of voice may be an important feature of this syndrome. 2, 3

In patients with PC Type 2 (Jackson–Lawler syndrome), there is a mutation in the gene encoding keratin 6b and 17. In this type, all the features of PC type 1 are present, and along with these, has features of natal teeth, hair anomalies (including pili torti, unruly hair and bushy eyebrows). Epidermal cysts or steatocysts are the hallmark findings in type 2 PC. PPKD and oral leukokeratosis are milder when compared to type 1 PC. 2, 3

Corneal leukokeratosis are the additional findings seen in PC type 3 (Schafer – Branuer syndrome). Type 4 PC, which is termed as PC tarda (PCT), is manifested in the second or third decade of life.

PC with unusual features has been noted. Rare cases of PCT have been reported with symptoms developing in the fifth decade of life. Cases with unusual dental findings, a case of PC with associated with B–cell lymphoma, a case of PC with wooly hair in a 10-month-old patient, cases with isolated involvement of the nails and PC associated with rhomboid glossitis are the various manifestations seen in PC.

The clinical features are in favour of Jadassohn–Lewandowsky syndrome (PC type 1) which was seen in association with vitiligo. This has been reported only once in literature among the approximately 450 cases of PC described. 4 This case is being reported because of the rarity of its kind for rarity gives a charm, so early fruits and winter roses are the most prized.

REFERENCES: 

  1. Agarwal P, Chhaperwal MK, Singh A, Verma A, Nijhawan M, Singh K, Mathur D. Pachyonychia congenita: A rare genodermatosis. Indian Dermatol Online J 2013; 4: 225–7.
  2. Rathore PK, Khullar V, Das A. Pachyonychia congenita Type 1: Case report and review of the literature. Indian J Dermatol 2016; 61:196–9.
  3. Das JK, Sengupta S, Gangopadhay A. Pachyonychia congenital type 2. Indian J Dermatol Venereol Leprol. 2009; 75:321–2.
  4. Feinstein A, Friedman J, Schewach-Millet M. Pachyonychia congenita. J Am Acad Dermatol, 1998;19:705–11.

Figure 1: Dystrophic nails of both the patient and her daughter.

Figure 2: Patient with thickened nails of pachyonychia congenita and depigmented patches of vitiligo.

Figure 3: Dystrophic nails over her hands -discoloured, thickened from base to tip, wedge shaped, with subungual hyperkeratosis.

Figure 4:  Patients daughter showing similar nail involvement

 

 

 





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