| 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
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| History |
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.
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| 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.
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ØIndirect laryngoscopy revealed nodular thickening of vocal cords.
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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.
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Nails: Pterygium of right index finger
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Scalp: Patchy cicatricial alopecia with sparsening of moustache seen (Fig.2)
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- 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 .
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| INVESTIGATIONS |
- ØHgm/ LFT/KFT/Blood sugar/ Lipid profile/Thyroid profile/Urine exam: WNL
- ØX-Ray hands / feet / skull / chest: NAD
- ØSkin Biopsy : H& E and PAS stained smear : PAS + material in superficial dermis around blood vessels.
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Figure 1
Pitted Scarring with yellowish hue
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Figure 2
Patchy Cicatricial Alopecia
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Figure 3
Beaded Margins of the Eyelids
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| What is your diagnosis?
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