Variable expressivity within families has also been documented. and fragility of skin. The disease was first mentioned in 1954 by Theresa Kindler in a 14-year-old girl with acral blistering since childhood who subsequently developed poikiloderma and photosensitivity.[1] We hereby report two siblings who were diagnosed with KS. Case Reports Case 1 A 5-year-old boy, born of nonconsanguineous parentage, presented with a history of repeated blistering, mainly involving the dorsum of the hands and feet since birth. Some blisters were spontaneous, whereas others were traumatic. The blisters contained a clear fluid and the blisters ruptured with scar formation. Subsequently, he developed photosensitivity with burns at the slightest exposure to sunlight. On cutaneous examination, hyperpigmentation was present on MK-4305 (Suvorexant) malar area of cheeks extending to the preauricular area [Figure 1]. Poikiloderma was present MK-4305 (Suvorexant) in the V area of the neck, multiple hyperpigmented macules of size varying from 0.2 to 1 1 cm were distributed over the trunk, abdomen, and back [Figures ?[Figures11 and ?and2].2]. The dorsum of the hands and feet had marked cigarette paper-like wrinkling [Figure 3]. Open in a separate window Figure 1 Multiple, hyperpigmented macules distributed over the face, neck, and trunk. Note the poikilodermatous skin changes on the V area of neck, anterior aspect (Case 1 and 2) Open in a separate window Figure 2 Similar poikilodermatous changes on the posterior aspect (Case 1 and 2) Open in a MK-4305 (Suvorexant) separate window Figure 3 Dorsum of hands showing cigarette paper-like wrinkling (Case 1) Case 2 Our second case was the 3-year-old sister of our first patient. According to her parents, there was a history of acral blistering, which started on the 3rd day of the neonatal period, but the tendency to blistering had decreased gradually over time. Besides, there was a history of intolerance to sunlight. Ik3-1 antibody Examination revealed multiple, hyperpigmented macules of variable sizes, distributed over the face, neck, trunk, and limbs. Poikilodermatous skin changes were present on the V area of neck [Figures ?[Figures11 and ?and2].2]. There was a fresh fluid-filled bulla on the dorsum of left foot [Figure 4]. She also had cigarette paper-like wrinkling of the dorsum of hands and feet [Figure 5]. Gingivitis was present in this patient [Figure 6]. Open in a separate window Figure 4 Bulla on the dorsum of left foot (Case 2) Open in a separate window Figure 5 Dorsum of hands showing cigarette paper-like wrinkling (Case 2) Open in a separate window Figure 6 Note the inflammation of gums (Case 2) The maternal uncle of the children had a similar MK-4305 (Suvorexant) illness, characterized by acral blistering and atrophy of skin over the dorsum of hands. The photosensitivity was milder. In both the patients, palmoplantar keratoderma, palmar pits, and nail abnormalities were absent. However, the palms had a glazed appearance, and the dermatoglyphics were reduced to some extent [Figure 7]. Mental and motor development was normal. Some of the scalp hairs were light brown to golden in color in both the patients [Figure 8]. Ophthalmic, dental, and systemic examination was normal. Routine laboratory examinations including complete hemogram, renal profile, and hepatic profile were normal. Urine and stool porphyrin levels were within normal limits. Histopathological examination showed atrophic epidermis, marked basal cell vacuolar degeneration and cleft formation at multiple levels in the dermo-epidermal junction [Figure 9]. Direct immunofluorescence did not reveal any deposition of immunoglobulins or complements. Genetic analysis, electron microscopy and immunostaining could not be done due to unavailability of resources and financial constraints. Symptomatic treatment was given to the patients in the form of sunscreens, antibiotics. Besides, the parents were counseled regarding avoidance of trauma and direct exposure to sunlight. Open in a separate window Figure 7 Glazed appearance of palms and reduction of dermatoglyphics (Case 1) Open in a separate window Figure 8 Golden brown color of the hair on the scalp (Case 2) Open in a separate window Figure 9 Photomicrograph showing atrophic epidermis, marked basal cell vacuolar degeneration and cleft formation at multiple levels in the dermo-epidermal junction (H and E, 100) Discussion KS is a rare genodermatosis characterized by congenital acral skin blistering, photosensitivity, progressive poikiloderma, and diffuse cutaneous atrophy. The autosomal recessive pattern of transmission has been reported, but sporadic cases are not uncommon, with numerous cases reported in consanguineous families. Variable expressivity within families has also been documented. The KIND1 gene mutated in KS codes for the protein kindlin-1, which is a membrane-associated.