Abhilasha Williams

Systemic inflammatory response syndrome in diseases of the skin

Background A number of dermatological conditions present with features of systemic inflammatory response syndrome (SIRS). This study evaluated the incidence and outcome of SIRS in patients with dermatological diseases. Study design Prospective cohort study. Results Patients admitted to a university hospital with a skin disease and fulfilling at least two SIRS criteria were included. The primary outcome measure was mortality. Secondary outcomes included incidence of multiple organ dysfunction syndrome (MODS), sepsis, severe sepsis and shock. Over 14 months, 2765 inpatients with skin related problems were examined. These included 721 patients admitted directly to the dermatology ward and 2044 patients referred from other departments within the hospital, with cutaneous manifestations. The incidence of SIRS in this cohort was 2.4% (n=67). The mean (SD) age was 32.6 (19.7) years with a male:female ratio of 1.2:1. Cutaneous adverse drug reaction (CADR) was the most common cause of SIRS (35.8%). During hospitalisation, 37 patients (55.2%) developed sepsis, 23 (34.4%) MODS, 15 (22.4%) severe sepsis and 6 (9%) shock. Methicillin sensitive Staphylococcus aureus was the most common skin isolate (41.4%) and Enterococcus the most common blood isolate. Overall mortality was 15% (10/67). Older age, low albumin, MODS, severe sepsis and shock were associated with an increased risk of death (p<0.03). Positive blood cultures, liver or lung involvement were also significantly associated with increased mortality (p<0.01). Conclusion The incidence of SIRS was low in dermatological diseases. In this cohort, CADR was the most common cause of SIRS. Patients who developed sepsis or MODS had a poor outcome.

Un-manipulated haploidentical transplant in Wiskott-Aldrich syndrome

BackgroundAllogeneic stem cell transplant is the only curative treatment for Wiskott-Aldrich syndrome.Case characteristics18-months-old boy with no sibling, cord blood or matched unrelated donor transplant options.OutcomeDoing well 7 years after haploidentical stem cell transplantation using unmanipulated bone marrow as the stem cell source.MessageFather as a haplo-identical donor is a feasible option.

Incontinentia pigmenti, an x-linked dominant disorder, in a 2-year-old boy with Klinefelter syndrome

Incontinentia pigmenti (IP) is a rare X-linked dominant disorder, in which skin lesions distributed along Blaschkos lines appear shortly after birth. Early lesions which are erythematous/bullous evolve over time into warty lesions, hyperpigmented swirls/macules, and atrophic hypopigmented streaks. Clinical features are heterogeneous. Abnormalities of the teeth, nails, hair, eyes, central nervous system, and breast may also be present. While intelligence is generally normal, varied degrees of intellectual disability/developmental delay have been reported. Lifespan is normal. IP is associated with mutations of the inhibitor of kappa light polypeptide gene enhancer in B cell, kinase gamma (IKBKG) gene on chromosome Xq28. This gene is involved in the activation of nuclear factor kappa B which protects cells against apoptosis; therefore, cells with IKBKG mutations are extremely susceptible to apoptosis. X-linked dominant disorders are lethal to male fetuses. Males who survive with IP either have mosaicism or an additional X chromosome (Klinefelter syndrome). We present a 22-month-old boy with IP and Klinefelter syndrome.

Progressive nodular histiocytosis associated with eale's disease

Progressive nodular histiocytosis (PNH) is a rare normolipemic macrophage disorder and belongs to a subgroup of non-Langerhans cell histiocytosis (LCHs) which is characterized by a progressive course with no sign of spontaneous resolution but without systemic involvement. We report a 30-year-old gentleman who presented with skin lesions all over the body associated with gradual bilateral painless loss of vision. On examination, approximately 30 to 40, skin-colored, firm, non-tender papules and nodules were noted over the body especially on the face and trunk. A skin biopsy revealed a cellular tumor in the dermis composed of oval to spindle-shaped cells, positive for CD68 but negative for S-100, CD34, CD21, CD35 and HMB45, supporting a diagnosis of spindle cell histiocytic tumor. Ophthalmic examination revealed a generalized arteriolar attenuation in both eyes. He received Tab Imatinib 400 mg OD for 5 months followed by Tab Pazopanib 800 mg OD for 4 months and both the drugs were stopped due to lack of any response in the skin lesions. We report this case due to its rarity, characteristic clinical presentation, and its association with Eales disease. Primary treatment remains surgical excision of bothersome lesions and optimal systemic treatment is still unknown.

New onset bullous lupus erythematosus in a systemic lupus erythematosus patient after initiation of hydroxychloroquin

We report a case of a 14-year-old Indian girl, a diagnosed case of systemic lupus erythematosus (SLE) who developed generalized erythematous rash and joints pain for 15 days. She was prescribed hydroxychloroquin and low dose deflazacort for joint pains. Within 3 days of initiation of hydroxychloroquin she developed generalized eruptions in the form of tense, fluid-filled blisters, erosions, and crusting. Biopsy showed subepidermal blistering with a prominent neutrophilic infiltrate. Direct immunofluorescence (DIF) showed positive granular immunoglobulin (Ig)G deposition with C3 and C1q at the dermoepidermal junction which was consistent with bullous SLE (BSLE). The lesions responded dramatically to dapsone 100 mg daily.