Toro J, Turner M, Gahl W A
Dermatology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892-1908, USA.
Arch Dermatol. 1999 Jul;135(7):774-80. doi: 10.1001/archderm.135.7.774.
Hermansky-Pudlak syndrome (HPS) consists of oculocutaneous albinism, a platelet storage pool deficiency, and lysosomal accumulation of ceroid lipofuscin. Patients with HPS from northwest Puerto Rico are homozygous for a 16-base pair (bp) duplication in exon 15 of HPS1, a gene on chromosome 10q23 known to cause the disorder.
To determine the dermatologic findings of patients with HPS.
Survey of inpatients with HPS by physical examination.
National Institutes of Health Clinical Center, Bethesda, Md (a tertiary referral hospital).
Sixty-five patients aged 3 to 54 years were diagnosed on the basis of the absence of platelet dense bodies in individuals with albinism and a bleeding diathesis. The presence of a 16-bp duplication in HPS1 was determined by polymerase chain reaction amplification; 40 patients were homozygous for the duplication and 25 lacked the duplication. All patients with the duplication were from northwest Puerto Rico; all patients without the duplication were non-Puerto Rican except 4 from central Puerto Rico.
Both patients homozygous for the 16-bp duplication and patients without the duplication displayed skin color ranging from white to light brown. Patients with the duplication, as well as those lacking the duplication, had hair color ranging from white to brown and eye color ranging from blue to brown. New findings in both groups of patients with HPS were melanocytic nevi with dysplastic features, acanthosis nigricans-like lesions in the axilla and neck, and trichomegaly. Eighty percent of patients with the duplication exhibited features of solar damage, including multiple freckles, stellate lentigines, actinic keratoses, and, occasionally, basal cell or squamous cell carcinomas. Only 8% of patients lacking the 16-bp duplication displayed these findings. As a group, the patients with the duplication lived closer to the equator than those without the duplication.
Patients with HPS exhibit wide variation in pigmentation and dermatologic findings.
Hermansky-Pudlak综合征（HPS）包括眼皮肤白化病、血小板储存池缺陷以及类蜡样脂褐质的溶酶体蓄积。来自波多黎各西北部的HPS患者在HPS1基因第15外显子中有一个16碱基对（bp）的重复，该基因位于10q23染色体上，已知可导致该疾病，这些患者为该重复的纯合子。
确定HPS患者的皮肤表现。
通过体格检查对HPS住院患者进行调查。
马里兰州贝塞斯达的国立卫生研究院临床中心（一家三级转诊医院）。
65例年龄在3至54岁之间的患者，根据白化病患者血小板致密体缺失和出血倾向进行诊断。通过聚合酶链反应扩增确定HPS1中16-bp重复的存在；40例患者为该重复的纯合子，25例患者没有该重复。所有有该重复的患者均来自波多黎各西北部；所有没有该重复的患者均非波多黎各裔，只有4例来自波多黎各中部。
16-bp重复的纯合子患者和没有该重复的患者皮肤颜色均为白色至浅棕色。有该重复的患者以及没有该重复的患者，头发颜色为白色至棕色，眼睛颜色为蓝色至棕色。两组HPS患者的新发现均为具有发育异常特征的黑素细胞痣、腋窝和颈部的黑棘皮病样病变以及毛发过长。80%有该重复的患者表现出日光损伤的特征，包括多发性雀斑、星状雀斑样痣、光化性角化病，偶尔还有基底细胞癌或鳞状细胞癌。只有8%没有16-bp重复的患者有这些表现。总体而言，有该重复的患者比没有该重复的患者居住得更靠近赤道。
HPS患者在色素沉着和皮肤表现方面存在广泛差异。
