Spot the diagnosis

Sunitha Kayidhi MD, DM (Rheumatology)
Consultant Rheumatologist, Continental Hospitals, Hyderabad, Telangana

Case 1

An 8-year-old girl was brought by her mother with a history of recurrent episodes of an erythematous itchy rash over the trunk since birth which progressed to involve the face, neck, chest, and extremities. She also had extensive scales over her scalp. No history of recurrent infections


  1. What do the images show?
  2. Identify the disease
  3. How do you diagnose the condition?
  1. Erythematous, desquamating, a polycyclic rash with a double-edged scaly border over the chest, abdomen, trunk, and upper limbs, suggestive of Ichthyosis linearis circumflex (a&b). Brittle teeth (c), Dry, lustreless, short, brittle hair with extensive scaling(d).
  2. Netherton Syndrome or Bamboo hair syndrome Netherton syndrome (NS) is an autosomal recessive disorder characterized by a triad of ichthyosis linearis circumflexa (ILC), classic hair shaft abnormality in the form of trichorrhexis invaginata, and atopic diathesis (atopic dermatitis, urticaria, angioedema, asthma, rhinitis, and food allergies).
  3. 1. Bamboo hair (d &e)appearance on Trichoscopic examination s/o typical trichorrhexis invaginata
    2. Next-generation clinical exome sequencing revealed a homozygous pathogenic variant in the SPINK 5 gene on chromosome 5.
    SPINK 5 gene encodes a serine protease inhibitor called LEKTI (Loss of lymphoepithelial Kazal-type-related inhibitor). Mutation causes brake in the activity of skin proteases thereby resulting in excessive degradation of stratum corneum and impairment of skin barrier 

Further reading:

  1. Barbati F, Giovannini M, Oranges T, Lodi L, Barni S, Novembre E et al. Netherton Syndrome in Children: Management and Future Perspectives. Front Pediatr. 2021;9:645259.
  2. Herz-Ruelas ME, Chavez-Alvarez S, Garza-Chapa JI, Ocampo-Candiani J, Cab-Morales VA, Kubelis-López DE. Netherton Syndrome: Case Report and Review of the Literature. Skin Appendage Disord. 2021;7(5):346-350.

Case 2

A 46-year-old lady presented with pain and swelling in the small joints of her hands, wrists, and knees for the last 3 months. She also complained of intermittent painful swelling of both ears and pain over the nose. 


  1. What are the clinical findings?
  2. What is the diagnosis?


  1. Cauliflower ear left and right ear respectively (a&b), saddle nose(c),swollen PIP,DIP joints(d)
  2. Relapsing polychondritis

Distal PIP involvement is rarely seen in RP

Further Reading:

  1. Sharma A, Gnanapandithan K, Sharma K, Sharma S. Relapsing polychondritis: a review. Clin Rheumatol. 2013;32(11):1575-83.