Harper’s Textbook of Pediatric Dermatology

1. Harper’sTextbook ofPediatric Dermatology CHAPTER 10 10.8 - 10.15 Developmental Abnormalities Dr. AlirezaZeynadiniMeymand

2. Other abnormalities of the breastand nipple • Accessory breast tissue ( polymastia) • usually noted only after hormonal stimulation at puberty or in pregnancy. • are located along the primitive milk line • can be associated with other, especially renal, anomalies. • Fine - needle aspiration may serve as a useful tool for diagnosis.

4. Treatment: Complete excision of ectopic breast tissue is recommended because of the risk of malignant transformation

5. Athelia • is defined as complete absence of the nipple – areola complex and may be unilateral or bilateral. • It is generally noted at birth or shortly thereafter. • Athelia is believed to be caused by a failure in parathyroid hormone – related protein production.

6. Poland syndrome • This congenital anomaly consists of a spectrum of congenital deformities of the chest wall,breastand upper extremity. • Unilateral absence ( amastia ) or hypoplasia (hypomastia ) • renal malformations, dextrocardia and vertebral abnormalities.

7. Becker naevussyndrome • Hypomastia • naevusdepigmentosus • phacomatosiscesioflammea

8. While functional deficits in breast and nipple deformities are corrected early, aesthetic surgery is postponed until after puberty to achieve the maximum possible symmetry .

9. Developmental abnormalitiesof the umbilicus • result from complete or partial failure of obliteration of two embryological structures: • the omphalomesenteric (vitelline) duct • the urachus.

12. Completely patent omphalomesentericduct • a fistula between ileum and umbilicus. • The anomaly is noted soon after birth by faecal discharge severely irritating the adjacent skin.

13. partially patent omphalomesentericduct • a umbilical polyp of bright red colour (remnant of the peripheral portion) • an umbilical sinus (patency of the peripheral portion) • or a vitelline cyst (patency of the intermediate portion). • polyps and sinuses mostly secrete an exudate of serous or mucoid, more rarely of bloody or serosanguinous,characterfrom birth or shortly afterwards.

14. The rare anomaly is almost always combined with amastia (absence of the breast and nipple) • Ectodermaldysplasia • Al Awadi – Raas - Rothschild syndrome(absence or severe hypoplasia of skeletal parts of the limbs) • Poland syndrome • choanal atresia –athelia syndrome • scalp – ear – nipple syndrome • ADULT (acro - dermato - ungual - lacrimal - tooth) syndrome

15. completely patent urachus • fistula between the urinary bladder and umbilicus. • It presents soon after birth by leakage of urine from the abnormal – appearing umbilicus, which may cause irritation of periumbilical skin. • may be confused with pyogenic granuloma and infection of the genitourinary tract

16. partially patent urachus • may result in an umbilical urachalsinus (patency of the peripheral portion) or an urachalcyst (patency of the intermediate portion). • Adenocarcinoma of the urachus may rarely occur in later life and has a poor prognosis.

17. The diagnosis by: • radiographical imaging, especially ultrasound and sinography • histological demonstration of ectopic gastrointestinal or bladder transitional epithelium covering polyps or lining sinuses and cysts.

18. Treatment • Umbilical enteric and urinary fistulae are absolute indications for surgical intervention • Total resection of the umbilicus is usually not required.

19. Umbilical anomalies may also form part of complex malformation syndromes: • Riegersyndrome • 3MC syndrome (Malpuech – Michels – Mingarelli – Carnevale syndrome). • Robinow syndrome • PHACES

20. Median raphe cysts and canalsof the penis • are located in a midline position along the genitoperineal raphe anywhere from the urethral meatus to the anus but most commonly on the distal portion of the penis. • well - circumscribed,freelymobile, solitary or multiple cystic lesions. • they may be pigmented or appear as a perianal polyp.

22. Histologically: mimicking the epithelial lining of the male urethra and suggesting derivation from urethral or genital folds.

23. Mostly asymptomatic • Medical attention is sought in the first three decades of life for secondary infections of staphylococcal or gonococcal origin, injury or discomfort upon intercourse, or for cosmetic reasons.

24. Treatment: Simple excision with primary closure is effective because there is no communication with the urethra.

25. Infantile perineal ( perianal) protrusion • Infantile perineal protrusion is a harmless,oftencongenital, soft - tissue lesion on the perineal median raphe of prepubertal girls.

27. Classification into three different types: • The constitutional type: is considered to result from constitutional weakness of the median raphe or perineum of females or a remnant of a projected tip of the urogenital septum, it may be familial and/o congenital. • The functional type: is related to dietary changes, diarrhoea,constipationor other irritant exposure. • A third type is associated with genitoanal lichen sclerosus.

28. Clinical features: • single, soft,skin- or rose - coloured papule or nodule with a smooth or slightly velvety surface and resembles an outward projection of essentially normal, redundant skin. • The shape of the 5 – 12 mm long, 2 – 5 mm wide and 1 – 3 mm high lesion may assume the shape of a peanut, a hen ’ s crest, a tongue tip, a leaf or a cigar.

29. usually located along the midline of the perineum anterior to the anus, only exceptionally posterior to it or both. exclusively seen in girls. Mechanical irritation of wiping after defecation and constipation may cause swelling, inflammation or fissuring and induce pain Spontaneous regression is common in the functional type

30. Differential diagnosis: • Mariskes • Haemorrhoids • Acrochordons • midline malformations • genital warts • Sentinel tag of anal fissure • granulomatous lesions of inflammatorybowel disease • haemangioma • rectal prolapse

31. Treatment: • The child ’ s anal region should be cleaned from anterior to posterior to avoid inflammation. • Inflamed lesions respond to a short course with a topical corticosteroid • treatment of the lichen sclerosus-associated type is determined by the underlying dermatosis.

32. Precalcaneal congenitalfibrolipomatoushamartoma • Definition: • PCFH is a harmless nodular anomaly on the medial plantar aspects of infants ’ feet.

34. Pathology: lobulated mature adipose tissue protruding into the reticular dermis, enveloped by collageneous non – hypertrophic fibrous septae.

35. Clinical features: • solitary, soft, flesh -coloured, painless nodules of 5 – 10 mm size symmetrically • located on the medial posterior aspects of the soles, just anterior to the heels of an infant

36. Are present at birth or appear in the first few months of life,growin proportion to the growth of the infant and are most prevalent at about 1 year of age. • They tend to disappear at 2 – 3 years of age , but can persist considerably longer.

37. They almost never cause functional problems,suchas interference with standing and walking. • There are no reports of associated malformations. • Cutaneous ultrasound shows a homogeneous dermal • mass .

38. Differential diagnosis: • In contrast to PCFH, piezogenic papules usually develop in adulthood, are multiple and smaller, and accentuate with standing. • juvenile plantar fibromatosis • fibrolipomatoushamartoma of the plantar nerve • lipoma • naevuslipomatosus, • Haemangioma • neurofibroma • congenital solitary histiocytoma, • lymphatic malformation, • calcified nodules after repeated heel sticks • focal dermal hypoplasia amongst others

39. Treatment: • In almost all instances treatment is not required, apart from reassurance of the parents. • Surgical excision should be confined to cases of tenderness or walking discomfort.

40. Congenital smooth muscle hamartoma • CSMH is a cutaneous abnormality characterized by disorganized overgrowth of normal smooth muscle fibresof the musculiarrectorespilorum.

42. Pathology: • Histological examination shows a proliferation of large mature well - demarcated bundles of smooth muscle fibresin the reticular dermis which may extend to the subcutaneous tissue. • The bundles are haphazardly arranged, with a characteristic surrounding clear space.

44. Clinical features: • usually present at birth or noted shortly thereafter. • A distinct acquired form arising in childhood or • early adulthood is accompanied by hyperpigmentation and hypertrichosis and is thought to belong to the Becker naevusspectrum.

45. The most frequent presentation of the congenital variant is a single skin - coloured or slightly hyperpigmented indurated plaque, often with prominent vellus hairs. • It occurs on the trunk, particularly the lumbosacral area, or the extensor surfaces of the thighs, more rarely on arms, face or mammary region.

46. Another manifestation is an area of studded follicular papules without prominent hairs. • Stroking the lesion often produces transient elevation with piloerection (pseudo - Darier sign). • worm - like movements owing to involuntary contraction of the arrectorpili muscles may be elicited (myokymia)

47. Generalized forms may present with follicular dimpling and excess skin folds,representingone of the causes of the striking ‘ Michelin tyrebaby ’ phenotype. • They may be associated with psychomotor and growth retardation, epilepsy, inguinal hernia, joint hypermobility, skeletal, dental and other anomalies .

48. The clinical course of CSMH is benign. In most lesions, induration, hyperpigmentation and hypertrichosisdiminish with age. Malignant transformation has not been observed.

49. Differential diagnosis : • congenital melanocytic naevus • Becker naevus • connective tissue naevus • epidermal naevus • café - au - laitspot • Leiomyoma • mastocytoma

50. Treatment: No treatment is necessary.