Systemic Causes of Acne, Acne, Syndromic Acne, PCOS, SAHA Syndrome, HAIR-AN Syndrome, Alpert Syndrome, SAPHO Syndrome, PAPA Syndrome, PASH Syndrome, Dermatology, MBBS, Medical, AIIMS New Delhi

1. Bhoopendra Kumar
3432 MBBS(7th Semester)
AIIMS New Delhi

2.  PCOS(Polycystic Ovary Syndrome)
 HAIR-AN(Hyperandrogenism Insulin Resistance &
Acanthosis Nigricans ) Syndrome
 SAHA (Seborrhea, Acne, Hirsutism, Androgenetic
Alopecia) Syndrome
 Apert Syndrome
 SAPHO(Synovitis, Acne, Pustulosis, Hyperostosis, and
Osteitis) Syndrome
 PAPA(Pyogenic Arthritis, Pyoderma gangrenosum, and
Acne) Syndrome
 PASH( Pyoderma gangrenosum, Acne, Suppurative
Hidradenitis)

3.  Polycystic ovary syndrome (PCOS) is an
ovarian disease characterized by
hyperandrogenism, chronic anovulation, and
polycystic ovaries.

4.  Insulin resistance and hyperandrogenism are
responsible for the cutaneous involvement of PCOS.
Insulin resistance causes acanthosis nigricans (AN),
and hyperandrogenism leads to hirsutism, acne, oily
skin, seborrhea, and hair loss.

5.  Subphenotype of PCOS
 Hyperandrogenism, insulin resistance,
acanthosis nigricans, and obesity in the
absence of insulin receptor defect

6.  Characterized by seborrhea, acne, hirsutism, and
androgenetic alopecia
 Four types: idiopathic, ovarian, adrenal, and
hyperprolactinemic
 can be associated with polycystic ovaries, cystic
mastitis, obesity, insulin resistance, and infertility
 increased androgen synthesis in adrenals and ovaries,
disturbed peripheral metabolism of androgens, or
induction of metabolism and activation of androgens
in the skin may play important role

7.  Rare congenital type I acrocephalosyndactyly
syndrome
 Premature fusion of the craniofacial sutures and
syndactyly of the hands and feet
 Autosomal dominant, mutation in the FGFR2 gene

8.  Synovitis, acne, pustulosis, hyperostosis, and osteitis
 Propionibacterium acnes is estimated to play a
pathogenic role
 P. acnes stimulate innate immune response through
TLR-2. TLR-2 induces inflammatory cytokines via NF-
kB and mitogen-activated protein kinase pathway

9.  pyogenic arthritis, pyoderma gangrenosum, and acne
 autosomal dominant, autoinflammatory disorder
 PSTPIP1/CD2BP1 mutation on chromosome 15q

10.  pyoderma gangrenosum, acne conglobata,
and hidradenitis suppurativa
 molecular basis of PASH syndrome is not
known very well
 absence of pathogenic mutations in the
PSTPIP1 gene