The patient was treated with intravenous antibiotics for 2 weeks, with significant improvement of the inguinal lesion. The patient's colitis and perianal disease continue to be quiescent on scheduled infliximab treatments. [journals.lww.com]

Symptoms may include abdominal pain and bloody diarrhea with possible perineal involvement, with mild or no constitutional symptoms (2). The colonoscopic examination commonly reveals multiple scattered superficial or deep ulcers with pseudopolyps. [journals.lww.com]

Patients with Hermansky–Pudlak syndrome type 2 (HPS2) present with oculocutaneous albinism, nystagmus, prolonged bleeding time, and increased susceptibility to infections. [tandfonline.com]

Subject P3 was a male infant of healthy unrelated English Caucasian parents who presented at 12 months with failure to thrive, developmental delay, oculocutaneous albinism and neutropenia (0.2 10 9 /L). [haematologica.org]

The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. [flybase.org]

HPS patients may experience frequent epistaxis, easy bruising, and prolonged bleeding with injury or surgery. [preventiongenetics.com]

bruising of soft tissues, epistaxis, prolonged bleeding after dental extraction, surgery or childbirth and, in HPS-2 (see this term), neutropenia and recurrent infections. [orpha.net]

If a child with albinism also shows easy bruising or unusual bleeding then they may have Hermansky Pudlak syndrome. Standard tests of blood clotting and bleeding times may however be normal. [ssc.education.ed.ac.uk]

Signs & Symptoms The first symptoms of HPS often include easy bruising, bleeding gums, nose bleeds, and excessive bleeding after surgery or accidents. [rarediseases.org]

She presented at ten weeks with pendular nystagmus and failure to fix and follow. She was noted to have albinoid fundi, hypopigmented skin and neutropenia. [haematologica.org]

Lung function tests showed significantly decreased forced vital capacity (FVC) and forced expiratory volume in one second (FEV1) values, whereas the value of the FEV1/FVC ratio increased, indicating a severe restrictive ventilatory functional disturbance [journals.lww.com]