An uncommon presentation of pachyonychia congenital

Authors

  • Ahmadreza Rajaee
  • Amirhushang Ehsani
  • Fatemeh Moeineddin
Abstract:

A 10-month-old female presented with severe progressive wedge-shaped thickening and discoloration of all twenty nails. Further evaluations revealed palmoplantar keratoderma along with recurrent acral blisters causing residual crusted ulcers which were present during the past six months. Other findings include scalp kinky hair and dental caries. Patient history was remarkable for natal teeth and similar skin blisters in her older brother since his infancy.The patient's clinical presentation and history are consistent with pachyonychia congenita syndrome showing concomitant features of both subtypes 1 and 2, probably due to a new mutation in the responsible gene.

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

A Case of Empyema necessitans: An uncommon presentation of Empyema

ABSTRACTIntroductionEmpyema is an accumulation of pus in the pleural space. Empyema necessitans occurs when pus extends through the parietal pleura into the surrounding tissues.Case ReportWe present here a 4 month old babywith severe respiratory distress and anassociated huge boggy swelling over the left side of his chest and back. Evaluation revealed pus accumulated in the pleural space which ...

full text

Congenital Hepatic Fibrosis: An Uncommon Cause of Chronic Renal Failure

Congenital Hepatic Fibrosis (CHF) is a rare disease that affects both the liver and kidneys.  Congenital hepatic fibrosis (CHF) is an autosomal recessive inherited malformation defined pathologically by a variable degree of periportal fibrosis and irregularly shaped proliferating bile ducts. Affected individuals also have impaired renal function, usually caused, in children and teenagers, by an...

full text

Congenital cholesteatoma of the middle ear--uncommon clinical presentation.

INTRODUCTION Congenital cholesteatoma of the middle ear is un uncommon and yet not well-defined disease. Only few cases of cholesteatoma in thefossa ovalis with unusual clinical presentation have been reported in medical literature. CASE REPORT We reported a 16-year-old girl with congenital cholesteatoma in the fossa ovalis with minimal clinical presentation. A small mass was found occluding ...

full text

An unusual presentation of an uncommon disease

Extrapulmonary manifestations of sarcoidosis often go undiagnozed. Sarcoidosis should be considered in the differential diagnosis of cases presenting with parotid gland swelling, renal failure, and hypercalcemia. It's imperative to confirm the diagnosis with a tissue biopsy, as the condition is easily treatable with steroids.

full text

An Uncommon Presentation of Metastatic Melanoma

Metastases to the spleen are rare and are generally part of a multi-visceral metastatic disease. The most common sources of splenic metastases include breast, lung and colorectal malignancies as well as melanoma and ovarian carcinoma. Solitary splenic metastasis is very uncommon. We present a case of a 44-year-old man who presented at our department for gallstones symptoms. He had a past medica...

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 10  issue Suppl.2

pages  8- 8

publication date 2007-12-01

By following a journal you will be notified via email when a new issue of this journal is published.

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023