1. Background

• etiology unknown but it is considered to be one of at least 4 disorders characterized by congenital pancytopenia
  • other congenital pancytopenias:
    • Dubowitz Syndrome
    • Fanconi Anemia
    • Shwachman-Diamond Syndrome
• considered a rare form of ectodermal dysplasia

2. Genetic Defect(s)

• the 3 forms (x-linked, AR, AD) may represent 3 genotypes leading to a common DCS phenotype
• gene defect(s) during embryogenesis -> affects all 3 germ layers -> hamartomatous features within each layer -> hypoplasia and dysplasia in:
  • ectoderm - skin - dyskeratosis, hyperpigmentation
  • endoderm - mucous membrane - leukoplakia
  • mesoderm - bone marrow - aplastic anemia
• no chromosomal abnormalities

1. Cutaneous Manifestations (95% of cases)

• reticulated hyperpigmentation of face, neck, shoulders, and trunk (+/- from birth)
• patchy atrophic areas of hypopigmentation
• hyperkeratosis and hyperhidrosis of palms and soles
• acrocyanosis and bullae on hands and feet
• telangiectasia on face, neck, and chest
• hair - sparse, fine, loss, premature greying
  • scalp, eyebrows, and lashes
• nails - small, longitudinal ridges, dystrophic, atrophic, absent
• teeth - carious and malaligned

2. Ocular Manifestations

• blepharitis
• cataracts
• conjunctivitis
• ectropion
• epiphora
• glaucoma
• loss of eyelashes
• strabismus
• ulcers

3. Mucous Membrane Manifestations

• vesiculobullous lesions, ulcers, epithelial tags, premalignant oral leukokeratosis
• urethral - stenosis, phimosis, hypospadias, pyelonephritis, penile leukoplakia
• oral/GI - esophageal stenosis, diverticula, spasms, duodenal ulcers, anal leukoplakia, bifid uvula, umbilical hernia

4. Complications

1. Serum

• macrocytic anemia, increased HbF, low reticulocytes
• initially present with thrombocytopenia or anemia then pancytopenia
• 1/3 have neutropenia

2. Bone Marrow

• initially hypercellular then hypocellular

1. Pancytopenia