Ichthyosis vulgaris and pycnodysostosis: an unusual occurrence

Abstract

Pycnodysostosis is a rare autosomal recessive disorder whose gene responsible for this phenotype (CTSK), mapped to human chromosome 1q21, code for the enzyme cathepsin K, a lysosomal cysteine protease; with an estimated incidence of 1.7 per 1 million births. This clinical entity includes micromelic dwarfism, increased radiological bone density, dysplasia of the skull, acro-osteolysis, straightening of the mandibular angle and in some cases, dysplasia of the acromial end of the clavicle. Oral and maxillo-facial manifestations of this disease are very clear. Herein we reported a case of pycnodysostosis, showing short stature with widening of the sutures, unfused anterior and posterior fontanelles, crowding of teeth with dental caries and typical radiological features associated with ichthyosis vulgaris and palmoplantar keratoderma.

Management of chronic suppurative osteomyelitis in a patient with pycnodysostosis by intra-lesional antibiotic therapy

“…Pycnodysostosis, a rare bone dysplasias with an estimated prevalence of 1/million is characterized by physical features of dwarfism, hypoplastic nails, blue sclera, proptosis, parrot beak nose, frontal bossing and radiographic features of osteosclerosis, multiple fractures, acro-osteolysis of the distal phalanges, nonossified fontanelles, and clavicular dysplasia. [ 1 2 3 4 ] It is a autosomal recessive disease due to mutations mapped to chromosome 1q21 region that lead to cathepsin K (cysteine protease) deficiency in osteoclasts. [ 3 5 6 ] Faulty bone metabolism[ 7 8 ] makes these patients susceptible to osteomyelitis of the jaws which can be complicated further by pathologic fractures.…”

Cathepsin K osteoporosis trials, pycnodysostosis and mouse deficiency models: Commonalities and differences

“…Dermatological findings are not common in pycnodysostosis and, according to the best of our knowledge, only two patients with dermatological findings, that is, psoriasis [141] and ichthyosis vulgaris, [144] have been reported. In the case with ichthyosis vulgaris and palmoplantar keratoderma, the authors speculated that the ichthyosis vulgaris was not related to pycnodysostosis but instead to an additional gene deletion, filaggrin, which is located in close proximity to CTSK on chromosome 1q21.…”

“…In the case with ichthyosis vulgaris and palmoplantar keratoderma, the authors speculated that the ichthyosis vulgaris was not related to pycnodysostosis but instead to an additional gene deletion, filaggrin, which is located in close proximity to CTSK on chromosome 1q21. [144] However, dystrophic nails appear to be a general feature of pycnodysostosis patients. [145] Furthermore and contrary to observations in mice where a role for CatK in scar formation has been described, [29] no information regarding keloid formation in cases with pycnodysostosis is available.…”

The role of cathepsin K in oral and maxillofacial disorders

“…The typical features of pycnodysostosis include short stature, an increase in the bone density of long bones, pathological fractures with poor healing, stubby hands and feet with dystrophic nails, and typical craniofacial features (Xue et al, 2011). Here, we summarized the typical craniofacial features of pycnodysostosis in 135 reported cases (Table 1) (Arman et al, 2014;Balaji et al, 2014;Berenguer et al, 2012;Caracas et al, 2012;Cortisse et al, 2012;Della Marca et al, 2012;Farronato et al, 2014;Girbal et al, 2013;Huang et al, 2015;Kamak et al, 2012;Kshirsagar et al, 2012;Kumar, 2014;Kyung and Horton, 2015;Ortegosa et al, 2014;Ozdemir et al, 2013;Pangrazio et al, 2014;Puri et al, 2013;Raposo-Amaral et al, 2013;Rohit et al, 2015;Singh et al, 2015;Singh and Sambandam, 2014;Tinsa et al, 2014;Utokpat et al, 2013;Xue et al, 2015;Ainola et al, 2008;Alibhai et al, 1999;Alves Pereira et al, 2008;Bathi and Masur, 2000;Bertola et al, 2010;Chavassieux et al, 2008;Chen et al, 2007;Dimitrakopoulos et al, 2007;Fonteles et al, 2007;Fratzl-Zelman et al, 2004;Frota et al, 2010;…”

“…The typical features of pycnodysostosis include short stature, an increase in the bone density of long bones, pathological fractures with poor healing, stubby hands and feet with dystrophic nails, and typical craniofacial features (Xue et al , ). Here, we summarized the typical craniofacial features of pycnodysostosis in 135 reported cases (Table ) (Arman et al , ; Balaji et al , ; Berenguer et al , ; Caracas et al , ; Cortisse et al , ; Della Marca et al , ; Farronato et al , ; Girbal et al , ; Huang et al , ; Kamak et al , ; Kshirsagar et al , ; Kumar, ; Kyung and Horton, ; Ortegosa et al , ; Ozdemir et al , ; Pangrazio et al , ; Puri et al , ; Raposo‐Amaral et al , ; Rohit et al , ; Singh et al , ; Singh and Sambandam, ; Tinsa et al , ; Utokpat et al , ; Xue et al , ; Ainola et al , ; Alibhai et al , ; Alves Pereira et al , ; Bathi and Masur, ; Bertola et al , ; Chavassieux et al , ; Chen et al , ; Dimitrakopoulos et al , ; Fonteles et al , ; Fratzl‐Zelman et al , ; Frota et al , ; Fujita et al , ; Gelb et al , ; Hernandez‐Alfaro et al , ; Ho et al , ; Hunt et al , ; Karakurt et al , ; Kato et al , ; Khan et al , ; Kirita et al , ; Kundu et al , ; Laffranchi et al , ; Landa et al , ; Li et al , ; Moniz et al , ; Muto et al , ; Nagura et al , ; Nakase et al , ; Norholt et al , ; Olubaniyi et al , ; Ornetti et al , ; Ram et al , ; Senel et al , ; Singh et...…”