A 17-year-old male presented (Figs. 4.1 , 4.2 , 4.3 , 4.4 , 4.5 , 4.6 , 4.7 , 4.8 , and 4.9 ) with non-scarring blisters started soon after birth and induced by trauma. Other fi ndings were:
Epidermolysis bullosa simplex with anodontia or • hypodotia. Epidermolysis bullosa acquisita. • Bullous lupus erythematosus. • Other blistering disorders (pemphigus vulgaris, bullous • pemphigoid).
Biopsy Findings
Biopsy fi ndings revealed non infl ammatory subepidermal blister (Fig. 4.10 ). Electron microscopy showed disruption
(cytolysis) and vacuolar degeneration of basal keratinocytes, desmosomal detachment, and degenerated nuclei (Fig. 4.11 and 4.12 ).
Investigations
None.
Based on the Following Findings
The clinical features of epidermolysis bullosa simplex • (EBS). The histopathological fi nding of subepidermal blisters, with • the electron-microscopic fi nding of basal keratinocyte disrup-tion; confi rming the diagnosis of EBS. The associated fi ndings of hypodontia, alopecia, deaf-• ness, and nail dystrophy.
The Final Diagnosis was Kallin Syndrome (EBS with anodontia or hypodontia, nail dystrophy and alopecia).
Blisters, Hypodontia, Deafness and Alopecia
4
32 4 Blisters, Hypodontia, Deafness and Alopecia
Fig. 4.1 Alopecia and generalized depigmented patches
Fig. 4.2 Generalized depigmented patches on the back and arms
33Case
Fig. 4.3 Hypodontia, loss of eyelashes and part of eyebrows, blister on the right upper eyelid, areas of depigmentation around the eyes
Fig. 4.4 Loss of eyelashes and part of eyebrows, areas of depigmenta-tion around the eyes, and blisters over the forehead and right ear (encircled)
Fig. 4.5 Alopecia and depigmented patches on the scalp. Note the blister on the right ear (encircled)
34 4 Blisters, Hypodontia, Deafness and Alopecia
4.6
4.7
Figs. 4.6 and 4.7 Upper and lower extremities showing large patches of depigmentation, with areas of ruptured blisters
35Case
Fig. 4.8 Dorsum of the hands showing blisters ( encircled ), depigmen-tation, and nail dystrophy
Fig. 4.9 Dorsum of the feet showing blisters ( encircled ), depigmenta-tion, and nail dystrophy
Fig. 4.10 Non in fl ammatory subepidermal blister
36 4 Blisters, Hypodontia, Deafness and Alopecia
About the Diagnosis
De fi nition
Kallin syndrome is a variant of Epidermolysis Bullosa • Simplex (EBS) that shows; in addition to blisters; deaf-ness, alopecia, hypodontia, and nail dystrophy. The syndrome was named “Kallin” after the surname of • two sisters fi rst reported to have the described fi ndings. From the limited information available, it is uncertain • whether Kallin syndrome is a distinct form of EBS.
Epidemiology
Kallin syndrome is extremely rare. • Nielsen ( • 1994 ) reported two affected sisters in 1985. He reported another two cases in 1994. No other cases were reported in the literature since 1994. •
Pathogenesis and Etiology
Unknown. • Two genetic theories were suggested: an autosomal reces-• sive genetic trait or a gonadal mosaicism with an early dominant gene mutation.
Clinical Features
Patients typically develop localized acral blisters, not at • birth but in infancy. They have missing or absent teeth, oral erosions, nail dys-• trophies and sparse hair, which may normalize in adult life.
Histological Features
Subepidermal blister. • Electron microscopy shows epidermolytic cleavage of the • basal cells.
Investigations
Not required for the diagnosis. • CBC and iron; to evaluate anemia. • Bacterial culture; to evaluate non-healing wounds. •
Fig. 4.12 Electron microscopy of basal keratinocytes showing vacuo-lar degeneration, desmosomal detachment, and degenerated nuclei
Fig. 4.11 Electron microscopy showing disruption (cytolysis) of basal keratinocytes
37Bibliography
Differential Diagnosis
Other subtypes of epidermolysis bullosa simplex. • Epidermolysis bullosa acquisita. • Bullous lupus erythematosus. • Other blistering disorders (Pemphigus vulgaris, bullous • pemphigoid). Dyshidrotic eczema (For the hand lesions). •
De fi nite Diagnosis
The combination of the followings:• Blisters caused by trauma. – Deafness. – Alopecia. – Hypodontia. – Nail dystrophy. –
The exclusion of other blistering disorders by clinical and • histological means, including immuno fl uorescence and electron microscopy.
Prognosis
Data are not available as only few cases reported. • Being a variant of epidermolysis bullosa, it is considered • a lifelong disease which requires proper attention to the wound care and avoidance of trauma.
Treatment
There is no speci fi c treatment. • Wound care for the erosions and ulcerations is essential. •
Management of This Case
The patient received:• Mycophenolate Mofetil 500 mg t.d.s. ( – N.B. The author has found this drug to be effective for controlling EB ). Acitretin 10 mg/day. –
The development of new lesions was reduced by 70 %. • The rate of healing became faster (from more than a week • to 3–4 days). The patient was periodically monitored for any evidence • of immunosuppression or secondary infection. He was referral to a dentist and an audiologist for • evaluation.
Message
Kallin syndrome is extremely rare. • The hypopigmented patches in this patient were actually • a sign of vitiligo and not of post-in fl ammatory hypopig-mentation. This is because of the following reasons:
Epidermolysis bullosa blisters do not heal with –hypopigmentation. Vitiliginous areas are away from the blisters. – Biopsy from vitiliginous areas showed the absence of –melanocytes.
Treatment with Acitretin (which inhibits collagenase • thereby reducing EB severity and preventing carcinogen-esis) is a useful adjuvant therapy. To the best of the author’s knowledge; the association of • Kallin syndrome with vitiligo has not been previously reported.
Bibliography
Abanmi RK, Joshi DN, Atukorala NB, Pederskn O, Khamis AL. Autosomal recessive epidermolysis bullosa simplex. A case report. Br J Dermatol. 1994;130(1):115–7.
Burns T, Breathnach S, Cox N, Grif fi ths C. Rook’s textbook of derma-tology. Chichester: Wiley-Blackwell; 2010.
Gamborg Nielsen P, Sjölund E. Epidermolysis bullosa simplex local-isata associated with anodontia, hair and nail disorders: a new syn-drome. Acta Derm Venereol. 1985;65(6):526–30.
Nielsen PG. Kallin’s syndrome: two more cases. Acta Derm Venereol. 1994;74(2):150–2.
