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Papillon-Lefevre
syndrome is a rare genodermatosis characterized by palmoplantar keratoderma and
severe destructive periodontal disease. Clinically, it is characterized by
hyperkeratosis on soles of the feet and sometimes on palms of hands and
includes a transgradient pattern with scattered psoriasiform lesions. Following
the exfoliation of primary teeth, periodontal destruction severely affects the
alveolar bone in which the permanent dentition is retained, resulting in severe
atrophy of the alveolar ridges. As a result, patients developed edentulism early
in adolescent years. Other symptoms may include hyperhidrosis, intracranial
calcification, arachnodactyly, susceptibility to infections and mental
retardation. We here in report a rare case presentation of a 15 year old male
Ecuadorian patient who suffers from sharply demarcated erythematous and scaly
plaques in palms, forearms, knees and low back since childhood. Furthermore,
the patient was partially edentulous as evidence of aggressive periodontitis
was present. As a result of a skin biopsy and dental findings, the diagnosis of
Papillon-Lefevre syndrome was determined. In Ecuador, etretinate or acitretin
is not available, so treatment with isotretinoin 0.5 mg/kg was given to the
patient. The reported case shows a late diagnosis of Papillon-Lefevre syndrome
due to similar lesions that were mistaken for psoriasis. Early intervention in
Papillon-Lefevre syndrome cases is important to avoid aggressive periodontitis
that can be devastating. Because of so few studies on this rare disorder, the
etiology of Papillon-Lefevre syndrome is not completely understood. When
palmoplantar keratoderma is observed with aggressive periodontitis, one should
always include Papillon-Lefevre syndrome as a differential diagnosis. We want
to report this case in order to alert dermatologists and dentist to watch for
these signs and assist the proper diagnosis and treatment of this rare
syndrome.
Keywords: Case report, Palmoplantar keratoderma,
Papillon-Lefevre, Periodontitis, Tooth
INTRODUCTION
Papillon-Lefevre
syndrome (PLS) is a rare, autosomal recessive genodermatosis characterized by
palmoplantar keratoderma (PPK) and severe destructive periodontal disease [1].
It develops within the first years of life with signs of transgradient
hyperkeratosis of palms and/or soles. The affected gene is the CTSC gene that
encodes cathepsin C, which plays an important role in the inflammatory process
and in epithelial differentiation [2,3].
CASE REPORT
A 15 year old
Ecuadorian patient with a negative family history of skin diseases came to our
clinic complaining about skin thickening on soles since he was 6 months old.
The dermatosis progressed with sharply demarcated erythematous and scaly
plaques in palms, forearms, knees and low back when he was 6 years old.
Physical examination showed erythema, fissuring and severe diffuse thickening
of skin on the palms and soles with paronychia. The lesions extended dorsally
to the extensor surfaces of the hands and feet, and over the elbows, Achilles
tendons, and knees with a transgradient pattern. A scaly lesion was noted on
the intergluteal cleft, as well (Figure
1). The patient was partially edentulous, but inflammatory signs were not
found in the gums (Figure 2a).
The
anatomopathological examination of the skin biopsy revealed lamellar
hyperkeratosis, parakeratosis and focal areas of spongiosis. A panoramic dental
x-ray showed 3 remaining incisors teeth and 4 molars, important bone loss in
the mandibular arch and resorption of alveolar bone of maxilla (Figure 2b). He was diagnosed with PLS
so isotretinoin 0.5 mg/kg was prescribed for the patient. The patient is at
high risk of maxilar fracture and he is a candidate for bone graft.
DISCUSSION
The
Papillon-Lefevre syndrome (PLS) was first described in 1924 by Papillon and
Lefevre [1,3]. This is a very rare, autosomal recessive disorder [4]. Parental
consanguinity is demonstrated in 20% to 40% of the cases [2]. The patient
presented above does not have consanguineous parents and also he does not have
other affected sibling, altogether suggesting that the variable phenotypes of
PLS can be related to the other genetic or epigenetic/environmental factors
[5].
The PLS locus
has been mapped to chromosome 11q14-q21. The mutation of CTSC gene, in one or
both alleles, leads to the enzymatic dysfunction of Cathepsin C. This enzyme
has an essential role in the activation of granule serine proteases and in
epithelial differentiation. Decreased neutrophil phagocytosis and chemotaxis of
leukocytes can cause the patients to be more susceptible to the infections
[2,3].
Clinically, it
is characterized by hyperkeratosis more on soles than on palms, with
transgradient pattern and sometimes with scattered psoriasiform lesions [2,5].
In the case reported, there was a delayed in the diagnosis because the lesions
were mistaken for psoriasis. Dental alterations usually have an early-onset.
The development of the primary teeth proceeds normally, but the eruption of
them into the oral cavity is associated with gingival inflammation and
destructive periodontitis that is unresponsive to traditional periodontal
treatments. Following the exfoliation of primary teeth, periodontal destruction
continues to severely affect to the alveolar bone with permanent dentition,
resulting in generalized atrophy of the alveolar ridges [3]. As a result,
patients developed edentulism early in teenage years. Additionally, liver
abscesses, pyogenic skin infections, elevated IgE levels and cranial
calcifications can be find in these patients [3,5].
The diagnosis
is clinical and histopathological exam is unspecific [4]. A collaborative
approach involving the dermatologist and pediatric dentist is important. Good
dental care and the use of prophylactic antibiotics aim to minimize
periodontitis and the loss of teeth. It has been proposed that extracting
permanent teeth with periodontal disease may be a strategy to prevent the
atrophy of alveolar bone [3]. Treatment of skin lesions in PLS is difficult
because of recurrences. Response to topical therapy has not been satisfactory.
The use of oral retinoids has been reported to be effective in patients with
PLS [4] and it would diminish the inflammatory complications of the gums if it
is started early [4,6,7]. In Ecuador, etretinate or acitretin is not available,
thus, isotretinoin was used for our patient.
Early
intervention in PLS cases is important to avoid aggressive periodontitis that
can be catastrophic due to atrophy of the alveolar bone. In addition, these
children may also suffer from recurrent infections. PLS lesions are very
responsive to isotretinoin. Given PKK with periodontitis, one should always
include PLS as a differential diagnosis.
ACKNOWLEDGEMENT
We would like to thank Professor Santiago Palacios
A, who is the Medical Director of "Centro de la Piel" and a
dermatology teacher at "Pontificia Universidad Católica del Ecuador"
Medical School. Also, special thanks to Nafiseh Ghafouri, ORCID ID https://orcid.org/0000-0003-3851-523X,
for the extra help with grammar corrections.
1.
Goldsmith
LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, et al. (2012) Fitzpatrick’s
Dermatology in General Medicine. (Seventh), The United States of America:
McGraw-Hill.
2.
Toomes C,
James J, Wood AJ, Wu CL, McCormick D, et al. (1999) Loss-of-function mutations
in the cathepsin C gene result in periodontal disease and palmoplantar
keratosis. Nat Genet 23: 421-424.
3.
Bhavsar
MV, Brahmbhatt NA, Sahayata VN, Bhavsar NV (2013) Papillon-Lefevre syndrome:
Case series and review of literature. J Indian Soc Periodontol 17: 806-811.
4.
Coeli FR,
Macedo DM, Batista MD, Cestari S da CP, Rotta O (2008) Você conhece esta
síndrome? An Bras Dermatol 83: 375-377.
5.
Tekin B,
Yucelten D, Beleggia F, Sarig O, Sprecher E (2016) Papillon-Lefèvre syndrome:
Report of six patients and identification of a novel mutation. Int J Dermatol
55: 898-902.
6.
Lee MR,
Wong LCF, Fischer GO (2005) Papillon-Lefevre syndrome treated with acitretin.
Australas J Dermatol 46: 199-201.
7.
Sethuraman
G, Malhotra AK, Khaitan BK, Sharma VK (2005) Effectiveness of isotretinoin in
Papillon-Lefevre syndrome. Pediatr Dermatol 22: 378-379.
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