Hermansky-Pudlak syndrome in a pregnant patient: a case report.

[oculocutaneous albinism]

Hermansky-Pudlak syndrome (HPS ), a rare autosomal-recessive disorder encompassing multiple organs , is characterized by oculocutaneous albinism , platelet storage pool deficiency resulting in bleeding diathesis , and ceroid lipofuscin deposition which can lead to pulmonary fibrosis , colitis , cardiomyopathy and renal failure . Pregnancy in a patient with HPS can produce multiple complications such as peripartum hemorrhage and difficulties with administration of anesthesia , either regional or general .We present the case of a patient with HPS also complicated by spontaneous triplet pregnancy .A multidisciplinary approach , including the involvement of obstetric , anesthesia , and hematology teams , is the ideal for an HPS patient with the potential for multiple complications in the peripartum period .

Diseases
Validation

Diseases presenting "multiple organs" symptom

cowden syndrome

cutaneous mastocytosis

erdheim-chester disease

fabry disease

holt-oram syndrome

kabuki syndrome

lamellar ichthyosis

lymphangioleiomyomatosis

malignant atrophic papulosis

oculocutaneous albinism

primary hyperoxaluria type 1

pyomyositis

scrub typhus

You can validate or delete this automatically detected symptom