An Illustrated Dictionary of Dermatologic Syndromes

Susan B. Mallory

• Publisher: Routledge
• Year: 2019
• ISBN:
  9781351467209
• Edition: 2
• Topic: Medicine
• Subtopic: Medical Theory, Practice & Reference

Written by an internationally renowned researcher and teacher, this book provides a compendium of syndromes and dermatologic conditions. Completely revised and updated, the second edition includes genetic information, the genes and their loci, and the genetic linkage of certain syndromes that are now grouped with other diseases. The book retains the popular format of the first edition and includes color pictures of key syndromes from one of the major collections in the U.S. These features combine to make it an important book for office-based dermatologists who frequently see these problems in their practice and for dermatology residents who need this information to pass their boards.Describing some 716 syndromes in crisp detail with lavish color illustrations. A feature of special value is the list of carefully selected references quoted at the end of each entry to give the user ready access to definitive further reading on each syndrome. For residents and attending physicians alike, remembering and recognizing the variety of dermatologic syndromes that have been identified is a very difficult and time-consuming task. An Illustrated Dictionary of Dermatologic Syndromes provides a systematic and concise approach to the subject and is a valuable aid to both residents and attending physicians in dermatology and pediatrics. In his Foreword, Dr. Walter B. Shelley calls this, "a great book for browsing…a symphony of syndromes."

P

PACHYDERMOPERIOSTOSIS (MIM# 167100)

SYN: TOURAINE–SOLENTE–GOLÉ SYNDROME (PRIMARY HYPERTROPHIC OSTEOARTHROPATHY)

Hypertrophic changes of scalp, forehead, face and other skin

Ptosis

Cutis verticis gyrata (folded hyperplasia of the scalp)

Skin changes begin around puberty

Sebaceous hyperplasia

Hyperhidrosis of hands and feet

Periosteal lesions and hypertrophy of long bones

Clubbing of fingers and toes (Figure 152)

Worse in males

Mental retardation

Autosomal dominant (primary form)

Secondary form provoked by severe pulmonary disease, lung cancer, or other carcinomas; skin changes relatively mild

References

Ikeda F, Okada H, Mizuno M, et al. Pachydermoperiostosis associated with juvenile polyps of the stomach and gastric adenocarcinoma. J Gastroenterol 2004; 39: 370–374

Wright-Pascoe RA, Arscott G. Visual vignette. Primary pachydermoperiostosis or Touraine–Solente–Golé syndrome. Endocr Pract 2003; 9: 476

Figure 152 Pachydermoperiostosis — clubbing of fingers with enlargement of distal fingers

PACHYONYCHIA CONGENITA Type I (MIM# 167200)

SYN: JADASSOHN–LEWANDOWSKY SYNDROME

Marked thickening of nails (subungual hyperkeratosis) (Figure 153)

Recurrent nail shedding

Plantar and palmar keratoses

Acral bullae

Figure 153 Pachyonychia congenita — marked thickening of all nails

Follicular keratoses on buttocks and extremities

Hyperhidrosis of the palms and soles

Leukoplakia that histologically resembles a white sponge nevus and shows no tendency toward malignant degeneration

Gene locus: 17q12-q21, 12q13

Gene: KRT6A, KRT16 (keratin 6a, keratin 16)

Type II (MIM# 167210)

SYN: JACKSON–LAWLER SYNDROME

Clinical findings of Type I plus:

Bullae of palms and soles

Palmar/plantar hyperhidrosis

No mucosal lesions

Steatocystoma multiplex

Epidermal cysts

Natal teeth

Gene locus: 17q17-q21, 12q13

Gene: KRT6B, KRT17 (keratin 6b, keratin 17)

References

Munro CS. Pachyonychia congenita: mutations and clinical presentations. Br J Dermatol 2001; 144: 929–930

Ward KM, Cook-Bolden FE, Christiano AM, Celebi JT. Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2. Clin Exp Dermatol 2003; 28: 434–436

PAGET DISEASE

Progressive, marginated scaly plaque on nipple and areola with underlying moist erythema

Intraductal carcinoma of breast

Histology: Paget cells with clear cytoplasm

Pruritus common

Extramammary Paget disease most common in the anogenital region, and axillae

Reference

Quinn AM, Sienko A, Basrawala Z, Campbell SC. Extramammary Paget disease of the scrotum with features of Bowen disease. Arch Pathol Lab Med 2004; 128: 84–86

PAINFUL BRUISING SYNDROME

See Gardner—Diamond syndrome

PALLISTER–KILLIAN SYNDROME (MIM# 601803)

SYN: TESCHLER–NICOLA SYNDROME, PALLISTER MOSAIC SYNDROME

Coarse facial features: prominent forehead, flat broad nasal root with short nose and anteverted nostrils, chubby cheeks, long philtrum with thin upper lip, protruding lower lip, large low-set ears with thick lob...

Table of contents

• Cover Page
• Half Title
• Title Page
• Copyright Page
• Contents
• Introduction
• Acknowledgments
• Dedication
• General references
• A
• B
• C
• D
• E
• F
• G
• H
• I
• J
• K
• L
• M
• N
• O
• P
• Q
• R
• S
• T
• U
• V
• W
• X
• Y
• Z
• Appendix