—A 5-year-old girl presented with a problem of the nails, elbows and knees, present since birth. The patient was born with natal teeth. During the first year of life, numerous hyperkeratotic papules appeared over the knees and elbows. [escholarship.org]

In addition to the findings seen in PC type 1, type 2 patients present with bullae and hyperhidrosis of the palms and soles, natal teeth, and steatocystoma multiplex. [visualdx.com]

History of present illness revealed that oral lesions along with thickening of nails and callosities on palms and soles were present since 10 years of age. These changes were spontaneous in origin and gradually increasing in severity. [contempclindent.org]

We report a case of PC in an 18-year-old male patient who presented with subungual hyperkeratosis, palmar-plantar keratosis, and leukokeratosis. [jiaomr.in]

• Respiratory Distress

  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]

• Blister

  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]

  The most striking feature of PC is the painful blistering and callusing on the soles of the feet which severely affects patients’ mobility. PC follows an autosomal dominant pattern. [firstskinfoundation.org]

• Plantar Hyperkeratosis

  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]

• Leukonychia

  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]

• Kinky Hair

  A 5-year-old female, known case of pachyonychia congenita, presented with diffuse hair loss; remaining hairs were easily plucked kinky hairs. Hair samples from patient were investigated using a light microscope. [hindawi.com]

No evidence of any associated malignancy was found after thorough workup. She was diagnosed as PC Type 1. She was put on topical steroids and orally on acetretin 25 mg OD. [idoj.in]

Evidence suggests that treatment with rapamycin (or rapamycin analogues) may also be a promising option for treatment. [emedicine.medscape.com]

The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. [discovery.dundee.ac.uk]

Treatment Currently there is no specific therapy for PC so the main aim of treatment is to alleviate the pain caused by the plantar keratoderma. [the-dermatologist.com]

Management and treatment There is no curative treatment for PC yet. [orpha.net]

Prognosis Complications may include secondary infection that is usually well controlled by antibiotics therapy. [orpha.net]

Last updated: 12/10/2015 The long-term outlook (prognosis ) for people with pachyonychia congenita (PC) varies. Although the condition is not associated with a reduced lifespan, it can negatively impact quality of life. [rarediseases.info.nih.gov]

Etiology Although historically two subtypes have been described, PC-1 and PC2, it is today recommended to classify PC patients into four subgroups based the underlying molecular etiology: PC-K6a, PC-K6b, PC-K16 and PC-K17, as PC is caused by dominant [orpha.net]

GENETIC CAUSES OF PACHYONYCHIA CONGENITA Etiology & Pathogenesis 1/31/2015 Prepared by Dixi Dawn F. Apigo 10. [slideshare.net]

Etiology Genetic: Keratins 6a, 6b, 16, and 17. Keratin 6c may produce an attenuated phenotype known as hereditary painful callosities. Pathogenic mutation in one of the above keratins compromises appropriate filament formation. [clinicaladvisor.com]

Summary Epidemiology The prevalence is not known but approximately 1000 patients have been registered to date worldwide. Clinical description PC presents clinically as a spectrum of conditions. [orpha.net]

Any secondary infection may need to be treated with antibiotics, though infection can often be prevented with appropriate grooming and vinegar or bleach baths.[12][1][7] Epidemiology Pachyonychia congenita is a rare disorder with an unknown prevalence [wikiwand.com]

Any secondary infection may need to be treated with antibiotics, though infection can often be prevented with appropriate grooming and vinegar or bleach baths.[12][1][7] Epidemiology[edit] Pachyonychia congenita is a rare disorder with an unknown prevalence [en.wikipedia.org]

Objectives This review focuses on recent progress made towards understanding the pathophysiology of PPK lesions, the most prevalent and debilitating of all PC symptoms. [onlinelibrary.wiley.com]

Pathophysiology The condition is caused by genetic mutations in one of four genes that encode keratin proteins specific to the epithelial tissues affected in the two forms of the disorder. [wikidoc.org]

Caterina British Journal of Dermatology (2020) Pathophysiology of pachyonychia congenita‐associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment A.G. Zieman & P.A. [nature.com]

Pathophysiology Mutated keratin filaments aggregate, resulting in weakened filament structures and consequent cellular fragility. [clinicaladvisor.com]

A variety of chemical and surgical techniques were used to prevent nail regrowth. Prevention of nail regrowth was more complete for toenails than fingernails. [jaad.org]

Prevention General: Because pachyonychia congenita (PC) is an inherited condition, there is currently no known way to prevent the disease. However, a number of options are available for prospective parents with a family history of PC. [nutritionhouse.com]

Unfortunately, the pain associated with injections into lesions (oral pain medication and regional nerve blocks were required to allow treatment), prevents widespread use of this mode of administration. [sbir.gov]

A dietician can help identify your body’s needs and prevent you from eating the wrong things; and combining this with a personal trainer’s assistance, you can work out right and contribute to fast weight loss. [thefreshcarrot.ca]

Mutations in keratin genes alter the structure of keratin proteins, which prevents these proteins from forming strong, stable networks within cells. [ghr.nlm.nih.gov]