Dentists should be able to recognize this condition in its early stages and advice appropriate investigations and management as dentists may be the first to see and diagnose this condition. 1. Kaur T, Gupta RR, Mahajan BB, Sachdeva R. [contempclindent.org]

She consulted a dentist at the age of 3 for removal of badly decayed lower right back milk teeth, the post extraction period was uneventful. General examination revealed a moderately built and nourished girl with normal posture and gait. [jiaomr.in]

This could be because of PC has both autosomal dominant and autosomal recessive modes of inheritance with variable penetration, reflecting genetic heterogeneity. [2], [3], [4] Complications like respiratory distress due to laryngeal leukokeratosis and [contempclindent.org]

[…] to thrive in early infancy. [digital.library.adelaide.edu.au]

Type 3 patients (keratin-6A gene mutations), in addition to type 1 findings, also present with angular cheilitis, corneal dyskeratosis, and cataracts. These patients account for 12% of PC cases. [visualdx.com]

Less common features of PC include: Sores at the corner of the mouth (angular cheilitis). Teeth at or before birth (natal or pre-natal teeth). This is found in one subset of PC. Laryngeal involvement with a white keratin film on the larynx. [pachyonychia.org]

Further examinations showed patches of white, pseudomembranes on the buccal mucosa, and angular cheilitis. Her healthy parents had closed familial relationship. [hindawi.com]

[…] sites such as knees and elbows may be dry due to scale around hair follicles ( follicular hyperkeratosis ) Tends to become less obvious in adult life Mouth White patches on tongue and inside cheeks (leukokeratosis) Sores at sides of mouth ( angular cheilitis [dermnetnz.org]

These patients were originally diagnosed as having epidermolysis bullosa simplex because of a history of a life-long blistering disorder. [ncbi.nlm.nih.gov]

Skin blister in his right thigh and face. Figure 4: Skin Blister in the Face Figure 5: Skin Blister in the Thigh Blister with secondary ulcer on his cheek and ear. Thickening and friable nails of feet (Figure. 6) Koilonychias on her hands nails. [scifedpublishers.com]

[…] water, humectants (eg, urea, propylene glycol), and weak organic acids (eg, salicylic acid, alpha-hydroxy acid). [21] Treatment of hyperhidrosis, which is a bothersome and common feature of pachyonychia congenita, appears to be helpful in decreasing blistering [emedicine.medscape.com]

Synonym(s): nevus sebaceus Jadassohn-Lewandowski syndrome - ectodermal dysplasia of abnormal thickness and elevation of nail plates with palmar and plantar hyperkeratosis. [medical-dictionary.thefreedictionary.com]

From 1994 to 1997, four patients, 2 males and 2 females, ranging in age from 13 to 50 years, were referred to our Department because of dystrophic lesions in twenty nails, palmar and plantar hyperkeratosis, leukokeratosis of the tongue and mucous membranes [miami.pure.elsevier.com]

Am 28.09.2012 veröffentlicht Pachyonychia Congenita is an ultra rare skin disorders that causes painful blisters and calluses on hands and feet (focal palmar and plantar hyperkeratosis), Thickened Nails (hypertrophic nail dystrophy or pachy-onychia), [youtube.com]

hyperkeratosis), usually on pressure points or diffuse in some cases. [dermatologyforyou.com]

Our cases were unusual, with the fingernails showing a striking leukonychia and appearing clinically as Terry's nails. [ncbi.nlm.nih.gov]

Syndrome 1; PSS1 OMIM:609796 Peeling Skin Syndrome 2; PSS2 OMIM:616265 Peeling Skin Syndrome 3; PSS3 OMIM:607936 Peeling Skin Syndrome 4; PSS4 OMIM:617115 Peeling Skin Syndrome 5; PSS5 OMIM:618084 Peeling Skin Syndrome 6; PSS6 OMIM:616295 Peeling Skin with Leukonychia [informatics.jax.org]