DISCUSSION We present a kindred with 17 cases of PC in four generations. [docslide.com.br]

—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]

Thick, yellowish, hyperkeratotic plaques were present over the pressure points of the soles (Fig. 2). Palms also showed thick, hyperkeratotic papules. [edoj.org.eg]

Here, we present a case of PC with unusual clinical and histological features and a favorable response to oral acitretin. [karger.com]

In Conclusion Given the overlapping clinical presentation with other genetic disorders, only genetic testing can confirm the diagnosis. [podiatrytoday.com]

• Nail Abnormality

  No other ectodermal abnormalities were found. Treatment with vitamins A and E in high doses along with a moisturizing ointment topically for one year resulted in complete resolution of all nail abnormalities. [ijdvl.com]

  Diagnosis The diagnosis may be suspected if a young child has extensive nail abnormalities including thickened nail beds and unusually formed nail plates. [socialstyrelsen.se]

• Vietnamese

  Case presentation: A four-year-old Vietnamese girl presented with a thickened nail and oral leukokeratosis soon after birth. [bmrat.org]

  Phenotype and genotype features of Vietnamese children with pachyonychia congenita. Chu HT, Dinh Duong TA, Le DH, Le TV, Nguyen BB, Dang CV, Vu QV. Chu HT, et al. Pediatr Neonatol. 2023 Jan 3:S1875-9572(22)00275-3. doi: 10.1016/j.pedneo.2022.09.018. [pubmed.ncbi.nlm.nih.gov]

• Nightmare

  Leslie Pedrioli Journal of Investigative Dermatology (2014) Hand Dermatitis: an Allergist’s Nightmare Lindsey Wold, Jennifer K. Chen & Heather P. [doi.org]

• Hyperhidrosis

  Palmoplantar hyperhidrosis can be treated with aluminum chloride lotion, iontophoresis and botulinum toxin to prevent blistering and to reduce pain. [studyres.com]

  Hyperhidrosis of the nose, palms and soles, scanty papular hyperkeratosis of the knees and elbows and a white plaque on the tongue were additional features. [whonamedit.com]

  The characteristic features include: Abnormally thick curved nails (onychogryposis) Thickening of the skin (hyperkeratosis) of the palms, soles, knees and elbows White plaques (leukoplakia) in the mouth Excess sweating (hyperhidrosis) of the hands and [medicinenet.com]

  Hyperhidrosis of the nose,palms and soles, scanty papular hyperkeratosis of theknees and elbows and a white plaque on the tongue wereadditional features. [myslide.es]

• Alopecia

  In 1997, Templeton reported the first microscopic description of a patient with pachyonychia congenita-associated alopecia (PC-associated alopecia). [hindawi.com]

  Authors, Source MeSH Adult Alopecia Blister Bone Diseases Cataract Child, Preschool Cornea Darier Disease Eye Diseases Female Humans Intellectual Disability Keratosis Leukoplakia Male Nails, Malformed Sweating Tongue Diseases Tooth Abnormalities Tooth [unboundmedicine.com]

  Patients who also have natal teeth, alopecia and epidermoid cysts were previously described as having PC type 2. Patients with oral leukoplakia (a finding absent in PC type 2) were previously described as having PC type 1. [genedx.com]

  Pachyonychia congenita-associated alopecia. Case Rep Pathol 2012;2012:850658. Roche-Gamón E, Mahiques-Santos L, Vilata-Corell JJ. Paquioniquia congénita. Piel 2006;21(2):72-8. Rodríguez H, Cuestas G, Zanetta A, et al. [acta.tums.ac.ir]

• 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]

  […] and follicular hyperkeratosis. [miami.pure.elsevier.com]

  She had a scrotal tongue with leucokeratotic areas, Blister formation, Plantar hyperkeratosis, palmoplantar hyperhidrosis and Dental cavities since childhood [8]. [gulfdoctor.net]

  Painful calluses and blisters on the soles of the feet (focal plantar hyperkeratosis). Pain is one of the distinct characteristics of PC. Blisters are found under the callus in PC patients. [pachyonychia.org]

• Nail Hypertrophy

  Figure 1: Wedge shaped nail hypertrophy with massive subungual hyperkeratosis in all twenty nails. Figure 2: Plantar hyperkeratosis with deep fissuring. Figure 3: Mild focal hyperkeratosis of left hypothenar region. [odermatol.com]

  Symmetrical nail hypertrophy, present in nearly all cases, is accompanied by dyskeratosis and dysplasia of other ectodermal tissues. This article reviews the genetics, clinical manifestations, histopathology, and treatment of pachyonychia congenita. [ncbi.nlm.nih.gov]

  Type 1 PC (Jadassohn–Lewandowsky syndrome) is characterized by palmoplantar keratoderma, nail hypertrophy, oral leukokeratosis, and follicular keratosis. [ijdd.in]

  hypertrophy, oral leukokeratosis, and follicular hyperkeratosis. [mjdrdypv.org]

• Skin Thickening

  […] and raising of the nails on the fingers and the toes and thickening of skin on the palms of the hands and the soles of the feet. [medical-dictionary.thefreedictionary.com]

  Unusual Clinical Scenarios to Consider in Patient Management Transgrediens presentation (ie., extension of lesions onto the dorsal aspect of the foot) of blisters, erosions, and subsequent skin thickening is possible and may be secondary to trauma, edema [dermatologyadvisor.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]

Results Patients reported surgical treatments being most effective for cysts and mechanical treatments the most effective conventional therapeutic approach for all other investigated manifestations. [doi.org]

Treatment - Jadassohn Lewandowsky syndrome Currently, no ideal treatment for the thickened nail plate is available, although a few therapeutic options have been suggested. Resources - Jadassohn Lewandowsky syndrome Not supplied. [checkorphan.org]

Treatment should be tailored to the patient’s individual symptoms. The treatments mentioned above have been listed as successful in certain cases. The patient should be seen in follow-up as needed to address the symptoms. [dermatologyadvisor.com]

The patient may be informed that at present, no effective treatment is available; however, gene therapy treatment may become available in the future. [emedicine.com]

Prognosis - Jadassohn Lewandowsky syndrome Not supplied. Treatment - Jadassohn Lewandowsky syndrome Currently, no ideal treatment for the thickened nail plate is available, although a few therapeutic options have been suggested. [checkorphan.org]

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

–10,000 cases have been reported worldwide. [10] Sex Pachyonychia congenita affects both sexes equally. [5, 11] Age Patients with pachyonychia congenita often present at birth or soon after with the characteristic hypertrophic toenail dystrophy. [5] Prognosis [emedicine.com]

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]

McKee's Pathology of the Skin is the most complete, in-depth resource on dermatopathology, covering etiology, pathogenesis, disease mechanisms, and recent genetic, molecular, and basic science data. Drs. J. [books.google.com]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.ro]

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]

Occurrence/Epidemiology This section has been translated automatically. Incidence: 0.5-1/100,000 inhabitants/year. Etiopathogenesis This section has been translated automatically. [altmeyers.org]

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]

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

Pathophysiology Keratins are key structural proteins that form the cytoskeleton of epithelial cells. They are classified based on their biochemical properties into either type I (K9-K28, K31-K40) or type II keratins (K1-K8, K71-K86). [emedicine.com]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.de]

Prevention - Jadassohn Lewandowsky syndrome Not supplied. Diagnosis - Jadassohn Lewandowsky syndrome Not supplied. Prognosis - Jadassohn Lewandowsky syndrome Not supplied. [checkorphan.org]

Sirolimus oral solution and tablets have been used to prevent kidney transplant rejection since 2001. The effects of this medicine have been evaluated in experimental models. [ema.europa.eu]

The information presented here is not intended to diagnose, treat, cure or prevent any disease. Read disclaimer. [gulfdoctor.net]