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 Clinical Challenge: You Make the Diagnosis
 

Case study contributed by Dr. Atul M Kochhar, Dr. B. S. N. Reddy, Maulana Azad Medical College, New Delhi 110002

History 

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A 17 yr old male resident of Delhi
presented with complaints of :
  • Hoarseness of voice and inability to protrude tongue since the age of 1 year
  • Generalised scarring and hyperpigmentation since 1 year of age.
  • There was no h/o photosensitivity/ discoloration of urine/ preceding trauma/ fever/ malaise/ joint pain/ dysphagia/ chest or abdominal complaints/ cold intolerance/ weight gain / seizures.
  • One younger male sibling was similarly affected.

 

Examination
  • ü GPE: His height was: 137 cm, there was mild mental  retardation,  hoarseness of voice, ü  multiple hypo and hyperpigmented    papules present over back, anterior and   lateral side of neck;
  •  B/L anterior  axillary folds, lower abdomen and root  of penis extending on to shaft of penis.
  • ØIndirect laryngoscopy revealed nodular thickening of vocal cords.
  • ØMultiple hypo and hyperpigmented papules .ØMultiple atrophic pitted scars with thickening of skin and yellowish hue over face.Ø( Fig.1)
  • Reticulate hyperpigmentation over B/L buccal    mucosa. 
  •  Nails:  Pterygium of right index finger
  •  Scalp: Patchy cicatricial alopecia with sparsening of moustache  seen          (Fig.2)
  • Beaded margins of b/l eyelids ( Fig.3);
  • Skin  hyperkeratotic and warty over B/L knee, cubital fossae, elbows and anterior axillary folds;
  •  Multiple atrophic scars with hyperpigmentation over face (FiG.1); Crusted erosions Sparing of palms and soles .
INVESTIGATIONS
  • ØHgm/ LFT/KFT/Blood sugar/ Lipid profile/Thyroid profile/Urine exam: WNL
  • ØX-Ray hands / feet / skull / chest: NAD
  • ØECG:  WNL
  • ØCT- scan( Head) :  WNL
  • ØSkin Biopsy : H& E and PAS stained smear : PAS + material in superficial dermis around blood vessels.

 


Figure 1
 
üPitted Scarring with yellowish hue
 

 



Figure 2
 
Patchy Cicatricial Alopecia




Figure 3
 
Beaded Margins of the Eyelids
 
 What is your diagnosis?

Please e-mail responses to contactus@iadvldelhi.org ; All correct respondents will be acknowledged on this site next month.

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