Lesch-Nyhan Syndrome in an Indian Child

Hypoxanthine guanine phosphoribosyl transferase-1 (HGPRT-1) leading to Lesch-Nyhan syndrome (LNS) is one of the important causes of self-mutilation. Hereby, we report a case of LNS in a three and half-year-old male child, who presented with characteristic self-mutilating behavior. He had history of developmental delay, difficulty in social interaction, attention deficit and features of autism. His serum blood biochemistry was normal except for low hemoglobin levels and raised serum uric acid levels. With a diagnosis of LNS, the child was treated with allopurinol. With various modalities of physical restraint, his self-mutilating behavior came under control and currently the patient is being followed up.     

Iron therapy in hand eczema: a new approach for management

It is observed that adequate iron intake and status can limit nickel absorption from the diet in the human body. Chronic vesicular hand eczema (CVHE) due to nickel sensitivity is a common dermatological condition where the dietary nickel acts as a provocating factor. Such patients are usually treated with low nickel diet (LND). The present study was conducted to observe the result of addition of oral iron with LND in the treatment of CVHE in patients due to nickel sensitivity. 23 patients with CVHE due to nickel sensitivity were taken for this study. Study group (12 patients) were advised LND with oral iron for a period of 12 weeks. Control group (11 patients) were advised LND alone for a period of 12 weeks. Fast improvement noted in the skin lesions of the study group patients; 10 (83.33%) patients had complete clearance of their hand eczemas at the end of 12 weeks. There were significant reductions in the blood level of nickel in those patients. Moderate improvement noted in the skin lesions of the control group patients; 5 (45.45%) patients showed complete clearance of hand eczema at the end of 12 weeks. This study showed that oral iron helped to reduce nickel absorption from the diet. The study also showed that combination of LND and oral iron can bring a faster reduction in the severity of clinical symptoms of CVHE in a nickel sensitive individual.     

Nephrogenic systemic fibrosis: a brief review

Nephrogenic systemic fibrosis is a fibrosing disorder of the skin that develops in patients with advanced renal failure. It mostly presents with progressive hardening or induration of the skin of the extremities. Systemic involvement is also known to occur in this entity. Exposure to gadolinium contrast for radiological evaluation has been identified as the offending agent. The condition is progressive and can be seriously disabling. Therapeutic options are limited and not rewarding in majority of the cases. Awareness of this entity is important so that proper precautionary measures can be taken at the earliest to ameliorate the condition.     

Solitary cylindroma with malignant transformation

A 59-year-old woman presented with a history of rapidly progressive recurrent tumor of 6.5 cm diameter of the scalp. Histopathological examination revealed a case of malignant cylindroma. There has been no recurrence or metastases and the patient is disease free at the end of 15 months postoperatively. Malignant transformation occurs less often in solitary form of cylindroma, but once transformed, tumors behave aggressively with extensive local infiltrative growth or metastases. The case is reported to document a rare case of malignant cylindroma arising in a patient with solitary cylindroma on the parieto-temporal region.     

Juvenile hyaline fibromatosis

Juvenile hyaline fibromatosis is a rare, autosomal-recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. It is a connective tissue disorder with aberrant synthesis of glycosaminoglycans by fibroblasts. We report a 5-year-old female born of first-degree consanguineous marriage who presented with multiple, recurrent, painless, variable-sized nodules. Fine needle aspiration cytology smears and the subsequent histopathological examination from the nodules showed benign spindle cells in a Periodic acid Schiff-positive myxoid background. The disease has a relentlessly progressive course, with most patients surviving only up to the 4(th) decade. As of now, there is no specific treatment for this disorder. Genetic counseling is essential to explain to parents about a 25% chance of having a diseased baby in any pregnancy. With the gene being mapped recently, techniques for antenatal diagnosis are likely to be established.     

SCLEREDEMA DIABETICORUM WITH UNUSUAL PRESENTATION AND FATAL OUTCOME

We present a case of Scleredema Diabeticorum (SD) in a patient with diabetic neuropathy and restrictive respiratory disease with unusual skin lesion distribution. The onset of dermatologic symptoms heralded a progressive respiratory disease with constrictive component. Painful diabetic neuropathy was noteworthy and difficult to relieve. Predominantly, distribution of the skin lesions on the thighs makes the case exceptional. T2-weighted MRI showed abnormal hyperintensities along the muscles of the thighs in correspondence with the skin lesions. Gait and respiratory symptoms progressively worsened. After a transient remitting period, he developed sudden shortening of breath, arrested and expired at home.The atypical distribution of the skin lesions with further involvement of underlying muscles plus concomitant polyneuropathy and respiratory constrictive disease with sudden death is quite unusual and aggressive presentation of SD.     

Diffuse Cutaneous Mastocytosis with Bullous Lesions and Pulmonary Involvement: A Rare Case

Mastocytosis is defined as a heterogeneous group of disorders characterized by an accumulation of mast cells in one or more organs, particularly in the skin, bone marrow, liver, spleen and lymph nodes. However here we describe an 11-month-old girl child presented with diffuse cutaneous mastocytosis with bullous lesion, having pulmonary involvement, which is very rare and there is no available case report from India.     

Chronic myeloid leukemia in an adult ghanaian with sporadic neurofibromatosis 1

Patients with neurofibromatosis type 1 (NF1), a common, progressive, autosomal dominant neurocutaneous disorder, are predisposed to malignancies. Several types of hematologic malignancies have been described in them. However, to date there has been no report to the best of our knowledge of a patient with NF1 developing chronic myeloid leukemia (CML). We present an adult Ghanaian with NF1, who subsequently developed CML. Relevance of the case report is discussed.     

Ashy dermatosis: a controversial entity

We present here the case of a young Indian male with slowly progressive, diffuse darkening of the face, arms, neck, and trunk. The patient was not taking any medication and there was no history of any previous skin disease and the mucous membrane was not involved. These findings are consistent with a diagnosis for ashy dermatosis of unknown etiology.     

Livedo Reticularis Due to Pellagra in a Two Year Old Child

A two-year-old girl child was admitted with complaints of diarrhoea of one week duration in the paediatric ward. She was referred to the skin OPD for gradually progressive skin rashes on both lower limbs noticed since two days. Dermatological examination revealed finding of livedo reticularis. Dietary history revealed maize forming a significant portion of the child''s diet since the age of nine months. The child was treated with a course of Niacin in the form of Nicotinamide 50 mg twice a day for 4 weeks and the parents were advised not to give her maize in the diet. The skin lesions and diarrhoea regressed in duration of two weeks. This is probably the first time that a case of pellagra causing livedo is being reported, that too in a child.     

Variable response to propranolol therapy for infantile hemangiomas

Since propranolol was accidentally discovered to induce involution of hemangiomas, it is being used by many clinicians with a favourable response. We present our experience with use of propranolol and report three infants with hemangiomas who were treated with propranolol. First infant had a marked involution of the lesion; second infant had a appreciable response while the third infant had a initial minimal response with progressive increase in size of the lesion.     

Lethal systemic degos disease with prominent cardio-pulmonary involvement

A 48-year-old man presented with acute abdominal pain underwent laparotomy that revealed two perforated ulcers in jejunum. He had skin lesions with porcelain white atrophic scar which were ignored for 3 years, whereas the disease revealed own malignant nature and progressed to nervous, gastrointestinal, and cardiopulmonary systems. The diagnosis of Degos disease was established on the basis of clinical and histopathological features. He expired due to cardio-pulmonary insufficiency after 5 months from the onset of systemic involvement. Autopsy showed diffuse fibrotic changes in serosal membranes and internal organs. Distribution of skin lesions that involved palmoplantar surfaces, genitalia and scalp and, furthermore, course of disease as rapid progressive cardio-polmunary involvement are remarkable point in this patient. On the other hand, this case highlights importance of clinicopathologic correlation, specially in the dermatologic field.     

Acanthosis nigricans associated with transitional cell carcinoma of the urinary bladder

An elderly man from the region of Ladakh presented with recurrent episodes of lower respiratory tract infection, rapidly progressive Acanthosis nigricans, Acanthosis palmaris and plantar keratoderma. Detailed investigations revealed underlying metastatic transitional cell carcinoma of the bladder. This case is being reported for its rarity in the literature.     

Chromoblastomycosis from a Non-endemic Area and Response to Itraconazole

Chromoblastomycosis belongs to the heterogeneous group of subcutaneous mycoses. It is caused by various pigmented (dematiaceous) fungi, which gain entry into the skin via traumatic implantation. We would like to share a case report of chromoblastomycosis in a 32-year-old male, who presented to us with 3 years history of slowly progressive, itchy, verrucous, crusted lesions over right forearm and arm. He is being treated with itraconazole 100 mg twice daily. The case is of interest because it has so far not been reported from our region- the northwest arid zone of India. The patient showed favorable response to itraconazole.     

Acquired,Idiopathic, Patterned Facial Pigmentation (AIPFP) Including Periorbital Pigmentation and Pigmentary Demarcation Lines on Face Follows the Lines of Blaschko on Face

Background:

Acquired, non-nevoid, apparently idiopathic facial pigmentation are distributed over some specific locations like periorbital area, zygomatic area, malar area, root of nose, perioral and mandibular area. Periorbital pigmentation is the most well known entity in this group. These are bilaterally distributed homogenously diffuse gray to dark gray or slate-gray colored patches showing progressive intensification of pigmentation. These are often considered as physiologic or constitutional pigmentation. Some portions of the margins of these patches were described previously as pigmentary demarcation line (PDL- F, G, H).

Aim:

To analyze the distributional patterns of acquired, apparently idiopathic facial pigmentations and to evaluate the etiologic aspects of these conditions.

Materials and Methods:

Spatial patterns, distribution, and orientation were analyzed among 187 individuals with idiopathic non-nevoid, facial pigmentation. Observed patterns were compared with various pigmentary nevi and Blaschko''s lines on face.

Results:

It was found that most of the idiopathic facial pigmentary alterations including periorbital pigmentation and PDL on face had specific patterned distribution that had high similarity to that of the pigmentary nevi and Blaschko''s lines on face.

Conclusion:

It is hypothesized here that phenotypic expression of acquired patterned pigmentation (AIFPFP) is due to genetically determined increased pigmentary functional activity to various known and unknown yet natural factors like UV rays and aging. Mosaicism was a definite possibility. We also consider that the patterns actually reflected the normal patterns of embryological human pigmentation on face.     

Pseudoxanthoma elasticum with periumbilical perforation in a nullipara

Pseudoxanthoma elasticum (PXE) is an inherited multisystem disorder that primarily affects the skin and is characterized by progressive calcification and degeneration of the elastic fibers. PXE has recently been found to be caused by mutations in the ATP-binding cassette transporter C6 (ABCC6) or the multidrug resistance-associated protein 6 (MRP6) genes. Perforating PXE is a rare presentation that is usually seen in the periumbilical area in obese multiparous black women; it has distinct clinical and histopathological features and there may or may not be systemic manifestations. We report an unusual case of PXE in a nulliparous woman, with perforation in the periumbilical area and without any systemic involvement.     

Blastomycosis presenting as solitary nodule: a rare presentation

Blastomycosis is a chronic granulomatous and suppurative mycosis, caused by Blastomyces dermatitidis, which in the great majority of cases presents as a primary pulmonary disease. Primary cutaneous blastomycosis is very rare. We present a 57-year-old female patient with a solitary, slowly progressive nodule over upper lip of 2½ months duration. Initially, differential diagnosis of cutaneous leishmaniasis, pyoderma and deep mycoses were entertained. Slit smear preparation was suspicious of deep mycotic infection which was subsequently confirmed by biopsy and culture.     

Unusual associations of necrotizing fascitis: a case series report from a tertiary care hospital

Necrotizing fasciitis is a rapidly progressive, potentially fatal infection of the superficial fascia and subcutaneous tissue. It is rare in children. We report three such cases in which differentiating from common soft tissue infection was challenging. High index of suspicion is important as management initiated at an early stage is rewarding.     

Dermatitis Neglecta -- A Dirty Dermatosis: Report of Three Cases

Dermatitis neglecta is a condition that results from inadequate frictional cleansing leading to accumulation of corneocytes, sebum and sweat ultimately resulting in hyper-pigmented patch or verrucous plaque. Recognizing this condition avoids unnecessary, aggressive diagnostic and therapeutic procedures. Here we report three cases of dermatitis neglecta in whom the dermatitis developed as a result of intentional neglect of personal hygiene.     

Painful 20 fingers' onychodistrophy

Psoriatic onycho-pachydermo-periostitis (POPP) is a rare subset of psoriatic arthritis. It is usually localized to the hands and it is characterized by onychodistrophy, soft tissue thickening above the distal phalanx and periosteal reaction. The resolution is very slow due to the involvement of nails and bone. Low dose methotrexate and anti-tumor necrosis factor-α (anti-TNF-α) agents are the suggested therapies. We report a case of a 53-year-old man affected by palmo-plantar slight psoriatic dermatitis, who presented a rapid onset of POPP. Rx imaging showed enthesitis and a moderate phalanx erosion with articular spaces narrowing and swollen periosteal reaction. A magnetic resonance imaging test of the hands showed an initial stage of synovitis and extensive periostitis of the distal phalangeal tufts. The patient has been treated with oral methotrexate for a month with a rapid clinical improvement and pain reduction. As POPP at first manifests as a painful onycodistrophy, it can easily be confused with bacterial perionyxis. The delay in making the correct diagnosis, and therefore, the delay in giving a proper treatment would mean the progressive articular erosion and the permanent invalidation of the patient's ability to use his hands.