Cowden Syndrome: Case Report, Update and Proposed Diagnostic and Surveillance Routines.

Cowden syndrome (CS) is an infrequent autosomal dominant multisystem genodermatosis, generally involving the skin, oral mucosa, thyroid, breast and gastrointestinal tract. It is characterized by a late onset in the 2(nd) or 3(rd) decade of life, an extraordinary potential for malignant transformation, especially of breast and thyroid, and an identifiable germline mutation. In 80% cases, the human tumor suppressor gene, phosphatase and tensin homolog (PTEN) is mutated; mutations involving KILLIN, SDH B/D, PIK3CA and AKT1 genes account for the rest of the cases. Its clinical signs are not only the "essential pearls" for early and accurate diagnosis of CS but also help timely detection of neoplasia as they precede development of cancer by several years. We describe the first Indian and the third world report of polydactyly with CS, review this entity highlighting on recent clinical developments and emphasize on regular and thorough screening for prompt identification and management of the potentially malignant growths. We have also designed a baseline workup routine as well as a detailed screening program for these patients.

A clinical and statistical survey of cutaneous changes in the first 120 hours of life.

BACKGROUND: The spectrum of dermatological manifestations during neonatal period varies from transient self-limiting conditions to serious dermatoses; the latter, fortunately few, are disproportionately stressful to the parents, who due to lack of specialized pediatric dermatology clinics frequently get tossed between a dermatologist and a pediatrician. OBJECTIVES: This study was formulated to record cutaneous changes over the first five postnatal days of life and to statistically correlate those changes occurring in ≥ 11 neonates with three (parity, associated illnesses, and mode of delivery) maternal and three (sex, birth weight, and gestational age) neonatal factors. METHODS: This descriptive, cross-sectional study at a tertiary care hospital entailed recording detailed dermatological examination of 300 neonates having some (physiological and/or pathological) cutaneous changes and their statistical evaluation using the Chi-square test and significance (P < 0.05) as above. RESULTS: Superficial cutaneous desquamation (SCD), Mongolian spots (MS), and erythema toxicum neonatorum (ETN) were the first three common changes among a total of 15 conditions observed overall; these three, as also milia and icterus, revealed statistical significance with both maternal as well as neonatal factors. Lanugo and napkin dermatitis (ND) were statistically significant with respect to two neonatal factors and cradle cap (CC), a single maternal factor. Gestational age was of statistical significance regarding five cutaneous changes, associated maternal illness during pregnancy regarding four, birth weight as well as parity regarding three each, and sex of the neonate as well as mode of delivery regarding two each. CONCLUSION: Despite observing a statistically significant correlation of eight cutaneous changes with three maternal and/or three neonatal factors, more extensive studies in neonatal dermatology are required for validation of these unique statistical correlations.

Dyshidrosiform pemphigoid with Parkinsonism in a nonagenarian Maharashtrian female.

Dyshidrosiform pemphigoid is a rare variant of bullous pemphigoid localized to the hands and feet whose characteristic subepidermal blisters develop as a result of binding of the IgG autoantibodies to intracellular plaque and extracellular face of the hemidesmosome recognizing a 230-kDa plakin molecule (BP230, BPAg1or BPAg1e) and a 180-kDa transmembrane protein. Neurodegenerative processes (viz., stroke, dementia, Parkinsonism, epilepsy, etc) uncover BPAg1-n, an alternatively spliced form of BPAg1-e that stabilizes the cytoskeleton of sensory neurons, generating autoantibodies that may subsequently lead to BP by cross-reacting with BPAg1-e. We present a patient with Parkinsonism who later developed blisters, erosions and crusts localized to the palms and soles, confirmed histopathologically as bullous pemphigoid. To the best of our knowledge, ours is the first case report from India wherein Parkinsonism-generated autoantibodies led to the development of dyshidrosiform pemphigoid due to their cross-reactivity with BPAg1-e.

Angiokeratoma circumscriptum in a young male.

A 20-year-old male presented with multiple eruptions on his right leg since birth; these bled and were painful on trivial trauma. Examination revealed dark brown, hyperkeratotic, indurated, verrucous linear plaques with irregular borders. Histopathological evidence of hyperkeratosis, acanthosis, and extensive vascular proliferation in papillary dermis confirmed clinical suspicion of angiokeratoma circumscriptum (AKC). Excision and skin grafting yielded a cosmetically favorable outcome. Angiokeratomas, first described by Mibeli in 1889, are a group of vascular ectasias involving the papillary dermis. Angiokeratomas are more common in males; however, AKC-the rarest of its five variants-exhibits a female preponderance (F:M:3:1). AKC is an extremely rare nevoid disorder, only 100 of its cases having been reported in the world literature until 2006. Herein, we have reported a typical case of AKC in a young male that was previously misdiagnosed, and the patient wrongly counseled about the likelihood of its spontaneous regression.

Clinicoepidemiological study of skin manifestations in patients of chronic renal failure on hemodialysis.

BACKGROUND: Chronic renal failure (CRF) is associated with a variety of cutaneous manifestations as a result of underlying etiology as well as the various treatment modalities. AIM: To evaluate the prevalence of various dermatoses in patients with CRF on hemodialysis and to study the effect of hemodialysis on the intensity of pruritus. MATERIALS AND METHODS: A total of 35 patients of CRF on hemodialysis having at least one cutaneous manifestation were included in the study. RESULTS: Twenty-four (68.71%) cases in our study belonged to the age group of 50-69 years, out of which 16 cases were in the sixth decade. Xerosis and pruritus occurred in 80% and 65.71% of cases, respectively. Other common findings included pallor (68.57%), dyspigmentation (34.29%), cutaneous infections (34.39%), acquired perforating dermatosis (17.4%), and nail changes (60%). Hemodialysis failed to improve pruritus in 17 (73.9%) of our patients. Twenty-six patients (74.28%) suffered from hypertension, 13 of them also were known cases of type II diabetes mellitus. Five patients suffered exclusively from type II diabetes mellitus. CONCLUSIONS: In our small study, xerosis was the commonest finding and pruritus, the commonest symptom. The intensity of pruritus was largely unaffected by hemodialysis.