Unusual clinical manifestations in a case of Alagille syndrome.

Alagille syndrome, also known as arteriohepatic dysplasia, is a multisystem autosomal dominant disorder characterized by chronic cholestasis due to a paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis with associated vertebral, ocular, and renal anomalies, and characteristic facies. We report a case of Alagille syndrome in a 3-year-old boy with associated pruritus, follicular keratoses, palmar pits, and keratoderma-like changes over the dorsum of the hands. There have been single isolated case reports of phrynoderma and keratoderma. Palmar pits have not been reported in the literature.

Stewart-bluefarb acroangiodermatitis in a case of parkes-weber syndrome.

Stewart-Bluefarb acroangiodermatitis is the occurrence of pseudo-kaposiform changes with an underlying arterio-venous malformation. Parkes-Weber syndrome is a triad of arterio-venous malformation with varicose veins with bony and soft-tissue hypertrophy involving the extremity. A 13 year-old-female presented with ulcerated growth with bleeding episodes on right leg since past four years. A reddish discoloration over right leg was noticed at four years of age which remained unchanged until nine years of age, after which it showed rapid increase in size along with disproportionate increase in length and girth of right lower limb. Examination revealed hyperpigmented soft verrucous plaque over the right lower one-third of leg, along with presence of ulcers and dilated tortuous veins in the right lower leg with thrill and bruit over the right popliteal and inguinal region. A differential diagnosis of verrucous hemangioma and arterio-venous malformation with pseudo-kaposiform change was considered. Skin biopsy showed multiple fenestrated capillaries with perivascular lymphocyte infiltrate suggestive of capillary malformations. X-ray showed osteolytic defect in right tibia. Duplex ultrasound and magnetic resonance imaging of right leg showed multiple fast flowing small and medium sized arterio-venous malformations of small to moderate size. Thus, on the basis of clinical and radiological features, we made a diagnosis of Stewart-Bluefarb type of acroangiodermatitis with Parkes-Weber syndrome. She was managed conservatively with compression stockings.

A split-face comparative study to evaluate efficacy of combined subcision and dermaroller against combined subcision and cryoroller in treatment of acne scars.

BACKGROUND: Acne scars occur consequent to abnormal wound healing following sebaceous follicular inflammation in acne. Various types of acne scars are icepick, rolling, boxcar, hypertrophic, and keloidal. Different modalities of treatment include subcision, dermaroller, cryoroller, punch excision, chemical peeling, and lasers. OBJECTIVES: To compare the efficacy of combined subcision and dermaroller vs. combined subcision and cryoroller in acne scar treatment. METHODS: Thirty patients (19 males and 11 females) with grade 2, 3, and 4 postacne scarring (Goodman and Baron qualitative grading system) were enrolled in the study. Three sittings each at 1-month interval were carried out of subcision under nerve block on the entire face followed by derma roller (2.5 mm) and cryoroller on one half of the face. Standardized digital photography was performed preprocedure and at 6 months. Grading of acne scar photographs using the Goodman and Baron qualitative and quantitative grading scale was carried out by a blinded observer pre- and postprocedure at 6 months. Patients' own evaluation based on patient scar severity perception scale of 1-10 was also taken into account. RESULTS: Assessment using the quantitative grading scale showed a 57% improvement using combined subcision and cryoroller against 40% improvement with combined subcision and dermaroller. Average improvement perceived by the subjects was 61% with combined subcision and cryoroller against 45% with combined subcision and dermaroller. The data were analyzed using Wilcoxon signed rank test and found statistically significant. Postinflammatory hyperpigmentation on the cryoroller side and erythema, edema, and hematoma formation due to subcision was transient. CONCLUSION: Combined subcision and cryoroller is more effective than combined subcision and dermaroller for treatment of acne scars.

Subungual hyperkeratosis nail biopsy: a better diagnostic tool for onychomycosis.

BACKGROUND: Onychomycosis is one of the most common nail disorders. Mycological examination by potassium hydroxide (KOH) mount and fungal culture is the most commonly used diagnostic method. However, it is associated with a low sensitivity. AIMS: To evaluate the technique of subungual hyperkeratosis nail biopsy in diagnosing onychomycosis in HIV-infected and immunocompetent adults and compare it with mycological examination. METHODS: 34 HIV-positive patients who presented clinically with onychomycosis were recruited in the study from the beginning. There was no screening done for patients with onychomycosis. This has been clarified in manuscript under the heading of methods. RESULTS: All the fungal cultures yielded dermatophytes correlating with the biopsy findings. Only hyphal form of fungus was detected in KOH examination, indicating it was not a contaminant. Clinical types of onychomycosis are stated in discussion. CONCLUSIONS: PAS stain of subungual hyperkeratosis nail biopsy was the most sensitive in the diagnosis of onychomycosis in both HIV-infected and non-infected groups.

Cheilitis granulomatosa (Miescher granulomatous macrocheilitis) with trisomy 21.

A 30-year-old male with Down syndrome presented to us with diffuse swelling of the lower lip of seven years duration. On examination, there was gross enlargement of his lower-lip with fissuring at places. A histopathological specimen from the lower lip showed non-caseating granulomas. We treated our patient with intralesional triamcinolone acetonide and oral clofazimine. We report this case because of the rare association of cheilitis granulomatosa with Down syndrome.

Complex regional pain syndrome secondary to leprosy.

INTRODUCTION: Leprosy is a chronic infectious disease caused by Mycobacterium leprae affecting the skin and the nerves. Complex regional pain syndrome (CRPS/Sudeck's dystrophy) is a painful and disabling condition--a triad of autonomic, sensory, and motor symptoms disproportionate to the inciting event (inflammatory, infective, or traumatic nerve damage). CASE: A 20-year-old male presented with continuous pain, aggravated by cold and emotions, loss of fine touch and temperature sensation, redness, swelling, along lateral aspect of left hand and forearm with weakness in the grip of 6 months' duration. There was a 5-year history of sensory loss only over left index finger that he ignored. Examination revealed abnormal sensory and autonomic functions along left radial and median nerve distribution that were confirmed by nerve conduction studies suggestive of mononeuritis multiplex. Radial cutaneous nerve biopsy was suggestive of leprosy. Magnetic resonance imaging and ultrasonography showed no compressive etiology; however, MRI showed involvement of brachial plexus. Antileprosy, anti-inflammatory drugs, and steroids were given in view of neuritis because of lepra reaction with supportive measures of physiotherapy, transcutaneous electrical nerve stimulation, to no avail. A surgical median nerve decompression also failed to relieve the pain. Temporary stellate ganglion block improved the pain scale. Thus, excluding all other causes, the final diagnosis was CRPS secondary to leprosy. There is only one reported case of CRPS with leprosy. CONCLUSION: Leprous neuropathy caused the nerve damage that lead to CRPS type 2. Very rarely leprosy can lead to CRPS. CRPS is a diagnosis of exclusion.