Literature DB >> 22628988

Congenital hypotrichosis, eruptive milia, and palmoplantar pits: a case report with review of literature.

Gk Tharini1, M Subashini, S Anupama Roshan, D Prabhavathy, S Jayakumar.   

Abstract

We report a ten-month-old male infant, presenting with congenital hypotrichosis of scalp, absence of eyebrows and eyelashes. He also had multiple milia over face and extremities along with palmoplantar pits. The infant was born to third degree consanguineous marriage. None of the family members had similar disease. Histopathology was consistent with milia. Based on these findings, a diagnosis of unclassified ectodermal dysplasia was made.

Entities:  

Keywords:  Congenital hypotrichosis; ectodermal dysplasia; eruptive milia; palmoplantar pits

Year:  2012        PMID: 22628988      PMCID: PMC3358937          DOI: 10.4103/0974-7753.96086

Source DB:  PubMed          Journal:  Int J Trichology        ISSN: 0974-7753


  13 in total

1.  A case of Rombo syndrome.

Authors:  M A van Steensel; N G Jaspers; P M Steijlen
Journal:  Br J Dermatol       Date:  2001-06       Impact factor: 9.302

2.  Multiple milia in a newborn with congenital malformations: oral-facial-digital syndrome type 1.

Authors:  Arti Nanda; Amr Sharaf; Qasem A Alsaleh
Journal:  Pediatr Dermatol       Date:  2010 Nov-Dec       Impact factor: 1.588

3.  [Congenital hypotrichosis and milia with spontaneous regression during adolescence or Oley syndrome: a variant of Bazex-Dupré-Christol syndrome].

Authors:  V Andreani; M Richard; G Folchetti; S Varennes; N Philip; J J Grob
Journal:  Ann Dermatol Venereol       Date:  2000-03       Impact factor: 0.777

Review 4.  Genetics of skin appendage neoplasms and related syndromes.

Authors:  D A Lee; M E Grossman; P Schneiderman; J T Celebi
Journal:  J Med Genet       Date:  2005-11       Impact factor: 6.318

Review 5.  Nevoid basal-cell carcinoma syndrome.

Authors:  R J Gorlin
Journal:  Medicine (Baltimore)       Date:  1987-03       Impact factor: 1.889

6.  Bazex-Dupré-Christol syndrome: an ectodermal dysplasia with skin appendage neoplasms.

Authors:  Marco Castori; Daniele Castiglia; Francesca Passarelli; Mauro Paradisi
Journal:  Eur J Med Genet       Date:  2008-12-25       Impact factor: 2.708

7.  Basaloid follicular hamartoma: solitary and multiple types.

Authors:  M H Brownstein
Journal:  J Am Acad Dermatol       Date:  1992-08       Impact factor: 11.527

8.  Atrichia with papular lesions.

Authors:  M H Kanzler; J E Rasmussen
Journal:  Arch Dermatol       Date:  1986-05

9.  Bazex-Dupré-Christol syndrome in a 1-year-old boy and his mother.

Authors:  Andrezza Camarinha Napolitano Barcelos; Marcello Menta Simonsen Nico
Journal:  Pediatr Dermatol       Date:  2008 Jan-Feb       Impact factor: 1.588

10.  A novel PTCH1 germline mutation distinguishes basal cell carcinoma from basaloid follicular hamartoma: a case report.

Authors:  Ali Hellani; Hiba Baghdadi; Nidal Dabbour; Nidal Almassri; Khaled K Abu-Amero
Journal:  J Med Case Rep       Date:  2009-02-09
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