The term cicatricial alopecia refers to the destruction of the hair follicles and their replacement with scar tissue, and permanent hair loss. It may be due to many diseases. Here we report two cases of cicatricial alopecia associated with two very rare diseases. The first case is Kyrle's disease in a 10-yr-old male patient presenting with hyperkeratotic, dome-shaped papules resolving with atrophic scars over both upper and lower extremities, face and scalp. The second case is epidermolysis bullosa pruriginosa in a 21-year-old male patient who presented with albopapuloid and prurigo like lesions over body with scarring alopecia since five years of age.
Cicatricial alopecia, Epidermolysis bullosa pruriginosa, Kyrle's disease.
Kyrle in 1916 described a dermatosis which he named "hyperkeratosis follicularis et parafollicularis in cutem penetrans". Clinically Kyrle's disease is characterized by hyperkeratotic para-follicular or follicular papules, with central cone-shaped plug which can be removed easily, usually involving the extensor surface of extremities.The cause of disease is not known, but it may be associated with diabetes, chronic renal failure and hepatic dysfunction,. Epidermolysis bullosa pruriginosa (EBP) presents either at birth with mild acral blistering and erosions, or during infancy or childhood. It is characterized by extremely pruritic, lichenified or nodular lesions predominantly over legs, milia formation and albopapuloid lesions on the trunk. Most cases are sporadic; however, both autosomal recessive and dominant inheritances are recognized .
Case Report :
Case - 1
A 10-year-old male patient presented to our outpatient department with the chief complaint of raised multiple skin lesions over both upper and lower extremities, face and scalp for last 1 year. Some of the elevated lesions healed with scarring. The patient was otherwise in good health and was taking no medications. There was no family history of similar disease.
Examination demonstrated multiple, hyperkeratotic, dome-shaped, umbilicated papules with a diameter of 2 to 4 mm with central keratinous plug over his arms, hands, legs [Figure 1], face and scalp. In addition to hyperkeratotic lesions, cicatricial alopecia was present over the scalp [Figure 2]. Examination of the nails and mucosa showed no abnormality. Systemic examination was unremarkable.
On investigation, complete hemogram, fasting and post prandial blood sugar, serum urea and creatinine and routine urine analysis were normal.Two biopsies were taken, one from extremity and another from scalp. Histology showed a hyperplastic epidermis, and multiple epidermal invaginations containing parakeratotic scale with basophilic debris [Figure 3]. Elastosis perforans serpiginosa was ruled out by the absence of thickened elastic fibres around epidermal invaginations, confirmed by the Von Gieson stain. Reactive perforating collagenosis was not considered due to the lack of degenerated collagen at the base of the perforation and negative Masson-trichrome stain. In perforating folliculitis, the epidermal invagination is seen in relation to a vellus hair, but that was absent in our case. The case was diagnosed as Kyrle's disease involving scalp along with the other body sites. Patient was given oral isotretin at 1mg/kg/day along with topical retinoic acid (0.025% cream), and was asked to come for follow-up, but there was insignificant improvement.
Figure1. Hyperkeratotic, dome-shaped papules with central keratinous plug over both legs.
Figure 2. Multiple patches of cicatricial alopecia over scalp.
Figure 3. Histopathology of skin lesion. (H&E, X10). Cornified plug with focal parakeratosis in an epidermal invagination containing basophilic debris.
Case 2 :
A 21-year-old male patient presented to our outpatient department with the complaint of blisters since the age of five years all over body. The blisters first appeared on the scalp, then progressed to involve back, chest, arms, thighs and legs, and then healed with pruritic papules or with scars. Prior to his visit to us, he had been treated for the skin disease with different modalities, including topical and systemic steroids, with no long-lasting benefit. No family members of the patient had any similar skin disease. Cutaneous examination demonstrated whitish papules (the so-called albopapuloid lesions) as well as prurigolike lesions over back and chest. There were pruriginous papules in linear distribution over both the shins [Figure 4]. Multiple patches of scarring alopecia with crusted scaly plaques were seen over the scalp [Figure 5]. Mucosa, nail, palms and soles were free from any lesion and the teeth were normal. Systemic examination was unremarkable. Routine blood and urine examination were within normal limits. Histology from a lesion on the back showed subepidermal separation with mixed inflammatory cell infiltrate in upper dermis. Histology from scalp lesion showed sub-epidermal separation [Figure 6]. We diagnosed it as a case of epidermolysis bullosa pruriginosa on the basis of long history, albopapuloid lesions, pruritus, and histopathological finding of dermo-epidermal separation. Patient was given topical tacrolimus ointment and lotion (0.03%) for body and scalp lesions respectively. Patient had come for followup after 1 month; there was significant improvement in itching and body lesions [Figure 7]. Progression of the lichenified plaques and erosions was arrested and in some areas lichenified plaques were reduced.
Figure 4. prurigo like lesions over both shins.
Figure 5. Cicatricial alopecia over scalp.
Figure 6. Histology of Epidermolysis Bullosa Pruriginosa from scalp. (H&E, X10). Subepidermal separation.
Kyrle's disease is one of the perforating dermatoses and a rare chronic disorder of unknown aetiology. The primary event is claimed to be a disturbance of epidermal keratinization characterized by the formation of dyskeratotic foci and acceleration of the process of keratinisation. Kyrle's disease has two distinct forms: an inherited form that presents in childhood and an acquired form that usually develops in adulthood, more commonly in women between 30 and 50 years of age associated with some underlying systemic disorder. Topical retinoic acid may reduce the number of lesions. Other treatments which may help include oral isotretinoin, methotrexate, emollient creams, and high-dose vitamin A.
EBP is a type of dystrophic epidermolysis bullosa (EB) described by McGrath et al in 1994. In the one original series of eight cases reported by McGrath, three had family history of similar skin disease, with two showing an autosomal dominant and the other an autosomal recessive pattern of inheritance. In our cases there was no family history of similar complaints indicating a sporadic case.
Ultrastructurally, there is a blister formation below the level of the lamina densa, and quantitative or qualitative changes in anchoring fibrils at the dermoepidermal junction. Reduction in anchoring fibril numbers is found in lesional, perilesional and non-lesional skin of patients with EB pruriginosa. However, we could not perform electron microscopy in our case as we do not have facility for the same.
Treatment with topical tacrolimus has been reported to reduce the pruritus and progression of disease.
In dystrophic epidermolysis bullosa, scalp is sometimes involved, leading to scarring alopecia, but as the disease is so rare, it is a very rare cause of scarring alopecia. In Kyrle's disease involvement of scalp is very uncommon. We described the cases here, as among the various causes of cicatrical alopecia, these diseases are very rare. In the literature, case reports of Kyrle's disease and EB pruriginosa has been described. Here, these cases are of considerable clinical importance because of involvement of the scalp.
Figure 7. Post-treatment photograph demonstrated reduction in lichenified plaques and scarring.